id category name description provided_by synonym 0000114 0000231 0000233 0000234 0000424 0000589 0006012 0100001 :http://attempto.ifi.uzh.ch/ace_lexicon#TV_pl :http://attempto.ifi.uzh.ch/ace_lexicon#TV_sg :http://attempto.ifi.uzh.ch/ace_lexicon#TV_vbg :http://geneontology.org/formats/oboInOwl#created_by :https://w3id.org/biodatamodels/gff/end :https://w3id.org/biodatamodels/gff/start BFO_CLIF_specification_label BFO_OWL_specification_label Date P371 alternative_term close_match comment consider created_by creation_date creator curator_note definition_source deprecated editor_note editor_preferred_term elucidation example_of_usage genome_build has_alternative_id has_associated_axiom(fol) has_associated_axiom(nl) has_o_b_o_format_version has_o_b_o_namespace has_synonym homepage imported_from in_subset is_class_level is_metadata_tag knowledge_source license logical_interpretation mondo#excluded_synonym mondo#pathogenesis mondo#related object predicate prior_version relation see_also shorthand source subject term_editor type GO:0106064 biolink:NamedThing regulation of cobalamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0065007 biolink:NamedThing biological regulation Any process that modulates a measurable attribute of any biological process, quality or function. tmpak2llvmy_mondo_relaxed.owl regulation owl:Class MONDO:0014264 biolink:NamedThing otosclerosis 10 tmpak2llvmy_mondo_relaxed.owl OTSC10|otosclerosis 10 OMIM:615589 owl:Class MONDO:0005349 biolink:NamedThing otosclerosis Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs. tmpak2llvmy_mondo_relaxed.owl otosclerosis|otosclerosis (disease) otosclerosis (disease) ICD9:387|ICD10:H80.8|HP:0000362|EFO:0004213|OMIMPS:166800|DOID:12185|SCTID:11543004|MESH:D010040|ICD9:387.8|ICD9:387.9|UMLS:C0029899|ICD10:H80.80 owl:Class HGNC:4685 biolink:NamedThing GUCY1A1 tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0000704 biolink:NamedThing gene A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. tmpak2llvmy_mondo_relaxed.owl INSDC_feature:gene owl:Class MONDO:0017364 biolink:NamedThing POEMS syndrome POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. tmpak2llvmy_mondo_relaxed.owl polyneuropathy organomegaly|POEMS syndrome|PEP syndrome|polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome|polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome|Crow-Fukase syndrome|osteosclerotic myeloma|Takatsuki syndrome GARD:0007411|EFO:1001115|DOID:14039|ICD10:D47.7|MedDRA:10053869|MESH:D016878|Orphanet:2905|SCTID:79268002|NCIT:C80303|UMLS:C0085404 POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. owl:Class MONDO:0016178 biolink:NamedThing peripheral neuropathy associated with monoclonal gammopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:209010 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: peripheral neuropathy associated with monoclonal gammopathy' MONDO_0016178 owl:Class MONDO:0001322 biolink:NamedThing pericardium cancer A malignant neoplasm involving the pericardium. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of pericardium|malignant tumor of the pericardium|pericardium cancer|malignant pericardium neoplasm|pericardial tumor|malignant pericardial neoplasm|malignant neoplasm of the pericardium|malignant pericardial tumor|malignant tumor of pericardium|cancer of pericardium ICD10:C38.0|UMLS:C0346609|NCIT:C4567|DOID:116 owl:Class MONDO:0001340 biolink:NamedThing heart cancer A malignant neoplasm involving the heart tmpak2llvmy_mondo_relaxed.owl heart cancer|malignant neoplasm of the heart|malignant tumor of heart|malignant heart neoplasm|tumour of heart|Cardiac tumor|malignant Cardiac tumor|malignant Cardiac neoplasm|malignant neoplasm of heart|malignant heart tumor|Cardiac neoplasm, malignant|malignant tumor of the heart|cancer of heart DOID:117|ICD9:164.1|ICD10:C38.0|NCIT:C3548|MESH:D006338 owl:Class MONDO:0010142 biolink:NamedThing hypothyroidism due to TSH receptor mutations Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. tmpak2llvmy_mondo_relaxed.owl hypothyroidism, Nonautoimmune|hypothyroidism, congenital, due to TSH resistance|hypothyroidism, congenital, nongoitrous, type 1|hypothyroidism, congenital, nongoitrous, 1|thyroid-stimulating hormone, resistance to|CHNG1|hypothyroidism due to unresponsiveness to thyrotropin|TSH resistance|congenital nongoitrous hypothryoidism 1|congenital nongoitrous hypothyroidism 1|thyrotropin resistance UMLS:CN206435|UMLS:C3493776|Orphanet:90673|OMIM:275200|ICD10:E03.1|DOID:0070126 owl:Class MONDO:0000045 biolink:NamedThing hypothyroidism, congenital, nongoitrous tmpak2llvmy_mondo_relaxed.owl OMIMPS:275200 owl:Class UBERON:0006287 biolink:NamedThing radius-ulna pre-cartilage condensation A radius-ulna endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005866 biolink:NamedThing pre-cartilage condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. tmpak2llvmy_mondo_relaxed.owl precartilagenous condensation|precartilage condensation|pre-chondrogenic condensation|prechondrogenic condensation owl:Class MONDO:0000539 biolink:NamedThing striated muscle rhabdoid tumor A rhabdoid tumor that involves the striated muscle tissue. tmpak2llvmy_mondo_relaxed.owl striated muscle tissue rhabdoid tumor DOID:0050924 owl:Class MONDO:0003939 biolink:NamedThing muscle tissue disease A disease involving the muscle tissue. tmpak2llvmy_mondo_relaxed.owl disease of muscle tissue|muscle tissue disease|disease or disorder of muscle tissue|disorder of muscle tissue|muscle tissue disease or disorder DOID:66 owl:Class UBERON:0006966 biolink:NamedThing coronary capillary A capillary that is part of the coronary system. tmpak2llvmy_mondo_relaxed.owl heart capillary owl:Class UBERON:0003498 biolink:NamedThing heart blood vessel A blood vessel that is part of a heart [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cardiac blood vessel|blood vessel of heart owl:Class NCBITaxon:46839 biolink:NamedThing Colorado tick fever virus tmpak2llvmy_mondo_relaxed.owl CTFV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2748762 biolink:NamedThing Colorado tick fever coltivirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:5101466 biolink:NamedThing pedal digit digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl pedal digit|pedal digit skeleton owl:Class UBERON:5102544 biolink:NamedThing individual digit of digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl digit skeleton|digit owl:Class HP:0100699 biolink:NamedThing Scarring tmpak2llvmy_mondo_relaxed.owl Scarring|Scar tissue UMLS:C0008767|MSH:D002921|SNOMEDCT_US:48677004 koehlers 2011-03-29T06:39:56Z human_phenotype owl:Class HP:0003549 biolink:NamedThing Abnormality of connective tissue Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). tmpak2llvmy_mondo_relaxed.owl UMLS:C4025596 human_phenotype owl:Class UBERON:0007257 biolink:NamedThing intervertebral disk of sacral vertebra An intervertebral disk that is part of a sacral region of vertebral column. A sacral intervertebral disk connects at least one sacral vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra tmpak2llvmy_mondo_relaxed.owl intervertebral disc of sacral region owl:Class UBERON:0005179 biolink:NamedThing pelvic region element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. tmpak2llvmy_mondo_relaxed.owl pelvis region organ|pelvic element|pelvis organ owl:Class CHEBI:17792 biolink:NamedThing organohalogen compound A compound containing at least one carbon-halogen bond (where X is a halogen atom). tmpak2llvmy_mondo_relaxed.owl organic halide|RX|organic halides|organohalogen compounds owl:Class CHEBI:37578 biolink:NamedThing halide Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements. tmpak2llvmy_mondo_relaxed.owl halides owl:Class UBERON:0010698 biolink:NamedThing manual digit metacarpus pre-cartilage condensation tmpak2llvmy_mondo_relaxed.owl metacarpal bone pre-cartilage condensation|hand digit metacarpus pre-cartilage condensation|fore limb digit metacarpus pre-cartilage condensation|metacarpus pre-cartilage condensation|metacarpal pre-cartilage condensation owl:Class UBERON:0010884 biolink:NamedThing forelimb bone pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a forelimb bone. tmpak2llvmy_mondo_relaxed.owl wing bone pre-cartilage condensation owl:Class MONDO:0012190 biolink:NamedThing nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome tmpak2llvmy_mondo_relaxed.owl nephropathy with pretibial epidermolysis bullosa and deafness|nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome OMIM:609057|MESH:C563798|UMLS:C1836823|Orphanet:300333 owl:Class MONDO:0019723 biolink:NamedThing disease of glomerular basement membrane tmpak2llvmy_mondo_relaxed.owl basement membrane disease UMLS:CN206630|Orphanet:93550 owl:Class GO:0045260 biolink:NamedThing plasma membrane proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species. tmpak2llvmy_mondo_relaxed.owl hydrogen-translocating F-type ATPase complex|hydrogen-transporting ATP synthase|plasma membrane hydrogen-translocating F-type ATPase complex|proton-transporting ATP synthase complex owl:Class GO:0098797 biolink:NamedThing plasma membrane protein complex Any protein complex that is part of the plasma membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017121 biolink:NamedThing syndrome with a Dandy-Walker malformation as major feature tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:269546|UMLS:CN202471 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0017118 biolink:NamedThing syndrome with a cerebellar malformation as major feature tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:269523|UMLS:CN202468 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0005541 biolink:NamedThing spondylolysis A defect in the pars interarticularis of a vertebral bone. tmpak2llvmy_mondo_relaxed.owl spondylolysis (disease)|spondylolysis spondylolysis (disease) ICD10:M43.00|ICD10:M43.0|NCIT:C35034|MESH:D013169|EFO:0005649|DOID:2300|HP:0003304|UMLS:C0038018|SCTID_2010_1_31:240221008|SCTID:240221008 owl:Class MONDO:0000836 biolink:NamedThing disease of bone structure tmpak2llvmy_mondo_relaxed.owl bone structure disease DOID:0080010 owl:Class MONDO:0044638 biolink:NamedThing hypopharynx squamous cell carcinoma A squamous cell carcinoma that involves the hypopharynx. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of hypopharynx|hypopharyngeal epidermoid carcinoma|hypopharyngeal squamous cell carcinoma|squamous cell carcinoma of the hypopharynx|squamous cell carcinoma of hypopharynx|epidermoid carcinoma of the hypopharynx|hypopharyngeal throat squamous cell cancer Orphanet:494547|NCIT:C4043|EFO:1001960|ONCOTREE:HPHSC owl:Class MONDO:0005096 biolink:NamedThing squamous cell carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma|carcinoma, squamous cell, malignant|squamous cell carcinoma (morphologic abnormality)|epidermoid cell cancer|squamous carcinoma|squamous cell carcinoma|malignant epidermoid cell tumor|malignant epidermoid cell neoplasm|squamous cell carcinoma NOS (morphologic abnormality)|malignant squamous cell tumor|malignant squamous cell neoplasm|squamous cell cancer|squamous cell epithelioma DOID:1749|UMLS:C0007137|SCTID:402815007|ICDO:8070/3|EFO:0000707|MESH:D002294|NCIT:C2929|GARD:0001091 owl:Class MONDO:0006644 biolink:NamedThing alcoholic liver cirrhosis A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. tmpak2llvmy_mondo_relaxed.owl alcoholic cirrhosis of liver|Laennec's cirrhosis, alcoholic|Laennec's cirrhosis|portal cirrhosis|alcoholic cirrhosis MedDRA:10001618|ICD10:K70.3|MESH:D008104|UMLS:C1622502|DOID:14018|CSP:1754-7677|ICD9:571.2|SCTID:419728003|EFO:1000802|UMLS:C0023891|NCIT:C34782 owl:Class MONDO:0043693 biolink:NamedThing alcoholic liver diseases A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. tmpak2llvmy_mondo_relaxed.owl alcoholic liver disease|liver disease, alcoholic|alcoholic liver damage|alcoholic liver diseases NCIT:C34783|MESH:D008108|EFO:0008573|SCTID:41309000 owl:Class MONDO:0007127 biolink:NamedThing diffuse idiopathic skeletal hyperostosis This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. tmpak2llvmy_mondo_relaxed.owl ankylosing vertebral hyperostosis|diffuse idiopathic skeletal hyperostosis|Forestier disease|ankylosing vertebral hyperostosis with tylosis|disseminated idiopathic skeletal hyperostosis|dish|Forestier's disease SCTID:31487001|MESH:D004057|ICD9:721.6|UMLS:C0020498|DOID:6652|Orphanet:2206|GARD:0000842|ICD9:733.99|OMIM:106400|EFO:0007236|ICD10:M48.1|NCIT:C84671 owl:Class MONDO:0002185 biolink:NamedThing hyperostosis Excessive thickening of bone. tmpak2llvmy_mondo_relaxed.owl hypertrophy of bone (morphologic abnormality)|hypertrophy of bone|bone hypertrophy ICD10:M89.3|UMLS:C0020492|MESH:D015576|DOID:205|NCIT:C34712|SCTID:203514008|ICD10:M89.30|ICD9:733.99 owl:Class GO:0002866 biolink:NamedThing positive regulation of acute inflammatory response to antigenic stimulus Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpak2llvmy_mondo_relaxed.owl up regulation of acute inflammatory response to antigenic stimulus|up-regulation of acute inflammatory response to antigenic stimulus|activation of acute inflammatory response to antigenic stimulus|stimulation of acute inflammatory response to antigenic stimulus|upregulation of acute inflammatory response to antigenic stimulus owl:Class MONDO:0001095 biolink:NamedThing mediastinum neuroblastoma A neuroblastoma arising from the mediastinum. tmpak2llvmy_mondo_relaxed.owl neuroblastoma of mediastinum|neuroblastoma of the mediastinum|mediastinal neuroblastoma|mediastinum neuroblastoma DOID:10660|UMLS:C1334673|NCIT:C6628|EFO:1000367 owl:Class MONDO:0021089 biolink:NamedThing peripheral nervous system cancer Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of PNS|malignant tumor of PNS|malignant peripheral nervous system neoplasm|peripheral nervous system cancer|malignant tumor of peripheral nerve|cancer of peripheral nervous system|malignant PNS neoplasm|malignant neoplasm of the peripheral nerve|malignant peripheral nerve tumor|malignant neoplasm of the PNS|malignant PNS tumor|malignant tumor of the peripheral nervous system|malignant tumor of the PNS|malignant peripheral nerve neoplasm|malignant neoplasm of peripheral nerve|malignant tumor of the peripheral nerve|malignant neoplasms, peripheral nerve|peripheral nervous system neoplasms, malignant|malignant neoplasm of the peripheral nervous system|malignant neoplasm of peripheral nervous system|malignant peripheral nervous system tumor|malignant tumor of peripheral nervous system ICD9:171.9|NCIT:C4961|SCTID:254986007|UMLS:C0751428 owl:Class UBERON:0007148 biolink:NamedThing lumen of hindgut An anatomical cavity that surrounded_by a hindgut. tmpak2llvmy_mondo_relaxed.owl hindgut lumen owl:Class OBO:CARO_0000000 biolink:NamedThing anatomical entity tmpak2llvmy_mondo_relaxed.owl owl:Class owl:Nothing biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001091 biolink:NamedThing calcareous tooth Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. tmpak2llvmy_mondo_relaxed.owl dentine containing tooth|tooth|vertebrate tooth|dental element owl:Class MONDO:0013937 biolink:NamedThing peroxisome biogenesis disorder 6B tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder type 6B|peroxisome biogenesis disorder 6B|PBD6B UMLS:C3553948|NCIT:C155759|OMIM:614871 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100264 biolink:NamedThing peroxisome biogenesis disorder due to PEX10 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene. tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX10 defect|PEX10 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0016161 biolink:NamedThing cerebral gigantism-jaw cysts syndrome Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. tmpak2llvmy_mondo_relaxed.owl cerebral gigantism jaw cysts|Cramer-Niederdellmann syndrome|Cramer Niederdellmann syndrome GARD:0001206|Orphanet:2081|SCTID:725418006|UMLS:CN200907|ICD10:Q04.8 https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts owl:Class MONDO:0015220 biolink:NamedThing syndrome with a central nervous system malformation as major feature tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:108991|UMLS:CN197562 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class SO:0002121 biolink:NamedThing vertebrate_immune_system_gene The configuration of the IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci). tmpak2llvmy_mondo_relaxed.owl immune_gene owl:Class MONDO:0003303 biolink:NamedThing neurofibroma of gallbladder A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. tmpak2llvmy_mondo_relaxed.owl neurofibroma of gall bladder|gall bladder neurofibroma|gallbladder neurofibroma|neurofibroma of gallbladder|neurofibroma of the gallbladder NCIT:C5746|UMLS:C1333751|DOID:5150 owl:Class MONDO:0019117 biolink:NamedThing genetic nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic neurological disorder|genetic nervous system disorder|rare genetic neurological disorder UMLS:CN205639|Orphanet:71859 owl:Class MONDO:0009665 biolink:NamedThing biotinidase deficiency Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. tmpak2llvmy_mondo_relaxed.owl multiple carboxylase deficiency, late-onset|BTD deficiency|juvenile-onset multiple carboxylase deficiency|biotinidase deficiency|late-onset biotin-responsive multiple carboxylase deficiency|late-onset multiple carboxylase deficiency|biotin deficiency|deficiency of biotinidase|multiple carboxylase deficiency, juvenile-onset MedDRA:10071434|Orphanet:79241|MESH:D028921|ICD10:D81.810|UMLS:CN043572|UMLS:C0220754|SCTID:8808004|DOID:856|ICD9:277.6|ICD10:E53.8|GARD:0000894|NCIT:C84598|OMIM:253260 owl:Class MONDO:0015454 biolink:NamedThing multiple carboxylase deficiency Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. tmpak2llvmy_mondo_relaxed.owl MCD|multiple carboxylase deficiency UMLS:C0026755|Orphanet:148|GARD:0003824|ICD10:D81.81|MedDRA:10028176|ICD10:E53.8|ICD10:D81.819|DOID:857|MESH:D009100 owl:Class UBERON:0008203 biolink:NamedThing pelvic cavity The part of the ventral body cavity that is within the pelvis. tmpak2llvmy_mondo_relaxed.owl space of pelvic compartment|cavitas pelvis owl:Class UBERON:0002553 biolink:NamedThing anatomical cavity Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. tmpak2llvmy_mondo_relaxed.owl cavity owl:Class GO:0001979 biolink:NamedThing regulation of systemic arterial blood pressure by chemoreceptor signaling The process that modulates blood pressure by the action of chemoreceptors found in the carotid and aortic bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions. tmpak2llvmy_mondo_relaxed.owl chemoreceptor regulation of systemic arterial blood pressure|chemoreceptor control of blood pressure|regulation of systemic arterial blood pressure by chemoreceptor signalling owl:Class GO:0001976 biolink:NamedThing nervous system process involved in regulation of systemic arterial blood pressure The regulation of blood pressure mediated by detection of stimuli and a neurological response. tmpak2llvmy_mondo_relaxed.owl neurological process involved in regulation of systemic arterial blood pressure|fast control of arterial pressure|blood pressure regulation by neurological process|neurological system process involved in regulation of systemic arterial blood pressure owl:Class HGNC:10288 biolink:NamedThing RP9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030921 biolink:NamedThing intellectual disability, autosomal dominant 55, with seizures tmpak2llvmy_mondo_relaxed.owl autosomal dominant mental retardation 55|intellectual disability, autosomal dominant 55, with seizures|autosomal dominant intellectual disability 55|mental retardation, autosomal dominant 55, with seizures|MRD55 UMLS:CN757796|DOID:0080227|OMIM:617831 owl:Class MONDO:0015802 biolink:NamedThing autosomal dominant non-syndromic intellectual disability Autosomal dominant form of non-syndromic intellectual disability. tmpak2llvmy_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic mental retardation|non-syndromic intellectual disability, autosomal dominant|autosomal dominant mental retardation DOID:0060307|GARD:0012107|UMLS:CN200399|Orphanet:178469 Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability owl:Class MONDO:0007950 biolink:NamedThing mastocytosis A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. tmpak2llvmy_mondo_relaxed.owl mastocytosis|urticaria pigmentosa|Mast cell disease|mast cell hyperplasia|MAST cell disease ICD10:D47.0|ICD10:C96.2|MedDRA:10026891|DOID:350|MESH:D008415|Orphanet:98292|UMLS:C0024899|OMIM:154800|GARD:0006987|NCIT:C84269|ONCOTREE:MCD|ICD10:Q82.2 owl:Class MONDO:0019044 biolink:NamedThing tumor of hematopoietic and lymphoid tissues tmpak2llvmy_mondo_relaxed.owl UMLS:CN205528|Orphanet:68347 owl:Class MONDO:0010395 biolink:NamedThing phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). tmpak2llvmy_mondo_relaxed.owl PRPP synthetase superactivity|phosphoribosylpyrophosphate synthetase superactivity|PRPS1 superactivity|gout, PRPS-related DOID:0111260|SCTID:723454008|OMIM:300661|MESH:C567064|UMLS:C1970827|Orphanet:3222|ICD10:E79.8 owl:Class MONDO:0019743 biolink:NamedThing nephropathy secondary to a storage or other metabolic disease tmpak2llvmy_mondo_relaxed.owl Orphanet:93593|UMLS:CN206659 owl:Class GO:0034982 biolink:NamedThing mitochondrial protein processing The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. tmpak2llvmy_mondo_relaxed.owl mitochondrial protein modification owl:Class GO:0016485 biolink:NamedThing protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. tmpak2llvmy_mondo_relaxed.owl protein maturation by peptide bond hydrolysis|protein maturation by peptide bond cleavage|protein maturation by proteolysis|peptidolysis during protein maturation owl:Class ECTO:9000044 biolink:NamedThing exposure to ketone An exposure to ketone. tmpak2llvmy_mondo_relaxed.owl exposure to ketone owl:Class ExO:0000002 biolink:NamedThing exposure event tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002969 biolink:NamedThing ciliary body cancer A malignant neoplasm involving the ciliary body. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the ciliary body|malignant neoplasm of ciliary body|ciliary body cancer|malignant neoplasm of the ciliary body|malignant ciliary body tumor|tumor of the ciliary body|malignant ciliary body neoplasm|malignant tumor of ciliary body|cancer of ciliary body DOID:4352|SCTID:188263008|UMLS:C0496833|NCIT:C4766|ICD10:C69.4 owl:Class MONDO:0002658 biolink:NamedThing iris cancer A malignant neoplasm involving the iris. tmpak2llvmy_mondo_relaxed.owl malignant tumor of iris|tumor of the iris|malignant neoplasm of the iris|malignant tumor of the iris|malignant iris neoplasm|cancer of iris|iris cancer|malignant neoplasm of iris|malignant iris tumor UMLS:C0346372|NCIT:C4554|EFO:1000996|SCTID:188264002|DOID:3478 owl:Class HGNC:8788 biolink:NamedThing PDE6D tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11103 biolink:NamedThing Hepacivirus C tmpak2llvmy_mondo_relaxed.owl post-transfusion hepatitis non A non B virus|Hepatitis C virus|human hepatitis C virus|human hepatitis virus C HCV|hepatitis C virus HCV|HCV|human hepatitis C virus HCV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11102 biolink:NamedThing Hepacivirus tmpak2llvmy_mondo_relaxed.owl Hepatitis C virus group|Hepatitis C-like viruses|Hepatitis C viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001075 biolink:NamedThing steatorrhea A finding of an excessive amount of fat in the stool. tmpak2llvmy_mondo_relaxed.owl steatorrhea (disease)|steatorrhea|fatty stool|fatty stool (finding) steatorrhea (disease) SCTID:27868004|MESH:D045602|DOID:10602|NCIT:C86917|HP:0002570 owl:Class MONDO:0005020 biolink:NamedThing intestinal disease A non-neoplastic or neoplastic disorder that affects the small or large intestine. tmpak2llvmy_mondo_relaxed.owl disease or disorder of intestine|disease, intestinal|intestinal disease|intestine disease or disorder|disease of intestine|diseases, intestinal|intestinal disorder|intestine disease|disorder of intestine ICD9:569.4|MESH:D007410|ICD9:564.4|DOID:5295|ICD9:520-579.99|ICD9:569.89|ICD9:570-579.99|ICD9:569.49|ICD9:564|ICD9:560-569.99|ICD9:569|SCTID:85919009|NCIT:C26801|ICD10:K63.9|ICD9:575|ICD9:569.9 owl:Class MONDO:0017611 biolink:NamedThing pituitary tumor A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. tmpak2llvmy_mondo_relaxed.owl neoplasm of the pituitary|neoplasm of pituitary gland|tumor of the pituitary|neoplasm of pituitary|pituitary neoplasm|tumor of pituitary gland|tumor of the pituitary gland|neoplasm of the pituitary gland|pituitary gland tumor|pituitary gland neoplasm|tumor of pituitary|pituitary tumor UMLS:C0032019|NCIT:C3330|SCTID:127024001|Orphanet:304055|ICD9:239.7 owl:Class MONDO:0006799 biolink:NamedThing hypothalamic neoplasm A primary or metastatic neoplasm that affects the hypothalamus. tmpak2llvmy_mondo_relaxed.owl neoplasm of the hypothalamus|hypothalamus neoplasm|neoplasm of hypothalamus|tumor of the hypothalamus|hypothalamic tumor|hypothalamus tumor|tumor of hypothalamus|hypothalamic neoplasms UMLS:C0020659|MESH:D007029|EFO:1000979|DOID:3644|NCIT:C3129|SCTID:254968009 owl:Class MONDO:0002501 biolink:NamedThing brain glioblastoma A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl brain glioblastoma|brain glioblastoma multiforme (disease)|glioblastoma (disease) of brain|grade IV astrocytic neoplasm of brain|glioblastoma multiforme of brain|grade IV astrocytic tumor of brain|grade IV brain astrocytic neoplasm|brain glioblastoma (disease)|glioblastoma multiforme of the brain|brain glioblastoma multiforme|grade IV astrocytic neoplasm of the brain|grade IV astrocytic tumor of the brain|grade IV brain astrocytic tumor SCTID:276828006|EFO:0006545|NCIT:C4642|UMLS:C0349543|DOID:3073 owl:Class MONDO:0018177 biolink:NamedThing glioblastoma The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl primary glioblastoma multiforme|grade IV astrocytic tumor|gliosarcoma (histologic variant)|GBM (glioblastoma)|grade IV adult astrocytic tumor|glioblastoma multiforme (disease)|glioblastoma multiforme|glioblastoma|grade IV astrocytic neoplasm|spongioblastoma multiforme|giant cell glioblastoma (histologic variant)|grade IV astrocytoma|glioblastoma (disease)|GBM|WHO grade IV glioma glioblastoma (disease) NCIT:C3058|ICD10:C71.9|HP:0012174|ONCOTREE:GBM|GARD:0002491|ONCOTREE:GB|MedDRA:10018337|SCTID:393563007|HP:0100843|MedDRA:10018336|ICDO:9440/3|UMLS:CN227279|Orphanet:360|UMLS:C0017636|UMLS:C1621958|DOID:3068 owl:Class GO:0065010 biolink:NamedThing extracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. tmpak2llvmy_mondo_relaxed.owl extracellular membrane-enclosed organelle owl:Class GO:0043227 biolink:NamedThing membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. tmpak2llvmy_mondo_relaxed.owl membrane-enclosed organelle owl:Class HGNC:16380 biolink:NamedThing TRIM32 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002495 biolink:NamedThing colon signet ring cell adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells. tmpak2llvmy_mondo_relaxed.owl colonic signet Ring cell adenocarcinoma|signet Ring cell adenocarcinoma of colon|signet Ring cell adenocarcinoma of the colon|colon signet ring adenocarcinoma|colon signet Ring cell adenocarcinoma|signet Ring cell colon adenocarcinoma|colonic signet Ring adenocarcinoma NCIT:C7967|DOID:3033|UMLS:C1707436 owl:Class MONDO:0002271 biolink:NamedThing colon adenocarcinoma A carcinoma that arises from glandular epithelial cells of the colon tmpak2llvmy_mondo_relaxed.owl COAD|adenocarcinoma of the colon|colonic adenocarcinoma|adenocarcinoma - colon|adenocarcinoma of colon|colon adenocarcinoma EFO:1001949|DOID:234|ONCOTREE:COAD|NCIT:C4349|UMLS:C0338106 owl:Class UBERON:0004337 biolink:NamedThing distal phalanx of manual digit 1 A distal phalanx that is part of a hand digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl PDP|pollical distal phalanx|manual digit 1 distal phalanx|distal phalanx of first digit of hand|first distal phalanx of hand|thumb distal phalanx|distal phalanx of thumb|distal phalanx of manual digit I owl:Class UBERON:0003865 biolink:NamedThing distal phalanx of manus A distal phalanx that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl phalanx distalis manus|distal phalanx of hand|terminal phalanx of hand|ungual phalanx of hand|distal phalanx of finger|distal phalanx of manual digit|hand distal phalanx|distal manual phalanx owl:Class MONDO:0007284 biolink:NamedThing cataract 20 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene. tmpak2llvmy_mondo_relaxed.owl CTRCT20|cataract 20, multiple types|CRYGS cataract (disease)|cataract (disease) caused by mutation in CRYGS ICD10:Q12.0|OMIM:116100|DOID:0110240 owl:Class MONDO:0011060 biolink:NamedThing early-onset non-syndromic cataract Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected. tmpak2llvmy_mondo_relaxed.owl nuclear sclerosis of the lens|cataract, age-related nuclear Orphanet:91492|ICD10:Q12.0|OMIM:601371|UMLS:C1832423 Not in the OMIM series. owl:Class MONDO:0045003 biolink:NamedThing scrotal disease A disease or disorder that involves the scrotum. tmpak2llvmy_mondo_relaxed.owl scrotum disease|disease of scrotum|scrotum disease or disorder|disease or disorder of scrotum|disorder of scrotum UMLS:C0268919|SCTID:49701002 owl:Class MONDO:0000001 biolink:NamedThing disease or disorder A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. tmpak2llvmy_mondo_relaxed.owl disease|condition|disease or disorder, non-neoplastic|other disease|diseases and disorders|disorders|disorder|diseases|medical condition|disease or disorder MESH:D004194|DOID:4|NCIT:C2991|UMLS:C0012634|SCTID:64572001|Orphanet:377788|ICD9:799.9|EFO:0000408|OGMS:0000031 owl:Class UBERON:0001733 biolink:NamedThing soft palate The muscular, non-bony arch-shaped posterior portion of the palate extending from the posterior edge of the hard palate. tmpak2llvmy_mondo_relaxed.owl muscular palate|palatum molle|velum|velum palatinum owl:Class CHEBI:15365 biolink:NamedThing acetylsalicylic acid A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity. tmpak2llvmy_mondo_relaxed.owl 2-Acetoxybenzenecarboxylic acid|2-(acetyloxy)benzoic acid|Acetylsalicylate|acide 2-(acetyloxy)benzoique|Aspirin|Acetylsalicylsaeure|2-acetoxybenzoic acid|acidum acetylsalicylicum|o-acetoxybenzoic acid|Easprin|o-carboxyphenyl acetate|Azetylsalizylsaeure|acide acetylsalicylique|ASA|2-(ACETYLOXY)BENZOIC ACID|acido acetilsalicilico|O-acetylsalicylic acid|salicylic acid acetate|Acetylsalicylic acid owl:Class CHEBI:26596 biolink:NamedThing salicylates Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010512 biolink:NamedThing intellectual disability, X-linked, syndromic, bain type tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, syndromic, bain type|mental retardation, X-linked, syndromic, bain type|MRXSB OMIM:300986|UMLS:C4310814 owl:Class MONDO:0020119 biolink:NamedThing X-linked syndromic intellectual disability A syndromic intellectual disability with an X-linked mode of inheritance. tmpak2llvmy_mondo_relaxed.owl syndromic X-linked mental retardation|intellectual disability, X-linked syndromic|X-linked syndromic intellectual disability|syndromic intellectual disability, X-linked|syndromic X-linked intellectual disability|mental retardation, X-linked syndromic DOID:0060309|Orphanet:98464|OMIMPS:309510 owl:Class MONDO:0004459 biolink:NamedThing bladder hepatoid adenocarcinoma A hepatoid adenocarcinoma that involves the urinary bladder. tmpak2llvmy_mondo_relaxed.owl bladder hepatoid adenocarcinoma UMLS:C1511189|NCIT:C39838|DOID:8097 owl:Class MONDO:0002751 biolink:NamedThing bladder adenocarcinoma A carcinoma that arises from glandular epithelial cells of the urinary bladder tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of the urinary bladder|adenocarcinoma of urinary bladder|adenocarcinoma of bladder|bladder adenocarcinoma|blad|urinary bladder adenocarcinoma|adenocarcinoma of the bladder NCIT:C4032|DOID:3711|ONCOTREE:BLAD|UMLS:C0279682|SCTID:255110003|EFO:1000125 owl:Class MONDO:0018983 biolink:NamedThing tolosa-Hunt syndrome Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others. tmpak2llvmy_mondo_relaxed.owl painful ophthalmoplegia|tolosa-Hunt syndrome|THS|tolosa Hunt syndrome|nonspecific inflammation of the cavernous sinus or superior orbital fissure UMLS:CN205421|UMLS:C0392060|GARD:0007777|MESH:D020333|NCIT:C85193|DOID:1278|SCTID:95794005|Orphanet:64686|MedDRA:10051526|ICD10:H49.8|UMLS:C0040381 https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome owl:Class MONDO:0015083 biolink:NamedThing nuclear oculomotor paralysis tmpak2llvmy_mondo_relaxed.owl Orphanet:100932 Editor note: see notes for supranuclear owl:Class MONDO:0004706 biolink:NamedThing discoid lupus erythematosus of eyelid tmpak2llvmy_mondo_relaxed.owl UMLS:C0155180|DOID:9076|ICD10:H01.12|ICD9:373.34|SCTID:79291003 owl:Class MONDO:0002137 biolink:NamedThing noninfectious dermatoses of eyelid tmpak2llvmy_mondo_relaxed.owl non-infected eyelid dermatoses DOID:1894|SCTID:111524003|ICD10:H01.1|ICD9:373.3|UMLS:C0155176 owl:Class MONDO:0012506 biolink:NamedThing arrhythmogenic right ventricular dysplasia 11 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene. tmpak2llvmy_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 11|ARVD11|arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair|DSC2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia type 11|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2|arrhythmogenic right ventricular cardiomyopathy 11|arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair|familial arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia, familial, type 11|ARVC11 MESH:C566471|DOID:0110082|OMIM:610476|ICD10:I42.8 owl:Class MONDO:0016342 biolink:NamedThing familial isolated arrhythmogenic right ventricular dysplasia Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms. tmpak2llvmy_mondo_relaxed.owl familial isolated arrhythmogenic ventricular cardiomyopathy|familial isolated ARVD|familial isolated arrhythmogenic ventricular dysplasia|familial isolated arrhythmogenic right ventricular dysplasia|familial isolated arrhythmogenic right ventricular cardiomyopathy|familial isolated ARVC UMLS:C4274968|OMIMPS:107970|ICD10:I42.8|Orphanet:217656|UMLS:CN226907|SCTID:715865008 owl:Class GO:0032812 biolink:NamedThing positive regulation of epinephrine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of epinephrine. tmpak2llvmy_mondo_relaxed.owl positive regulation of adrenaline secretion|stimulation of epinephrine secretion|upregulation of epinephrine secretion|up regulation of epinephrine secretion|up-regulation of epinephrine secretion|activation of epinephrine secretion owl:Class GO:0014060 biolink:NamedThing regulation of epinephrine secretion Any process that modulates the frequency, rate or extent of the regulated release of epinephrine. tmpak2llvmy_mondo_relaxed.owl regulation of adrenaline secretion owl:Class MONDO:0018789 biolink:NamedThing COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy tmpak2llvmy_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy 2022-03-01 UMLS:CN776856|Orphanet:477762 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' MONDO_0018788 owl:Class MONDO:0018788 biolink:NamedThing COL4A1 or COL4A2-related cerebral small vessel disease tmpak2llvmy_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy Orphanet:477759|UMLS:CN776854 owl:Class MONDO:0003256 biolink:NamedThing neurohypophysis granular cell tumor A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl granular cell tumor of the neurohypophysis|neurohypophysis granular cell tumor|granular cell tumor of the posterior pituitary gland|granular cell tumor of Neurohypophysis|granular cell tumor of the Neurohypophysis (WHO grade I)|granular cell tumor of neurohypophysis NCIT:C7017|UMLS:C1333873|SCTID:699331002|ICDO:9582/0|EFO:1000285|DOID:5047 owl:Class MONDO:0003257 biolink:NamedThing posterior pituitary gland neoplasm A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma. tmpak2llvmy_mondo_relaxed.owl neurohypophysis neoplasm (disease)|Neurohypophysis neoplasm|posterior pituitary neoplasm|posterior pituitary gland neoplasm|neoplasm of neurohypophysis|PITUICYTOMA, benign|neurohypophysis tumor|neurohypophysis neoplasm|posterior pituitary gland tumor|tumor of neurohypophysis|posterior pituitary tumor|Neurohypophysis tumor DOID:5048|UMLS:C1334957|NCIT:C7157 owl:Class MONDO:0001778 biolink:NamedThing dermoid cyst of skin A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure. tmpak2llvmy_mondo_relaxed.owl subcutaneous dermoid cyst|cutaneous dermoid cyst|skin dermoid cyst|dermoid cyst of the skin|cystic skin teratoma|zone of skin dermoid cyst|dermoid cyst of skin|skin dermoid|dermoid cyst of skin (finding) DOID:13691|SCTID:276729007|UMLS:C0349502|NCIT:C4632 owl:Class MONDO:0002378 biolink:NamedThing dermoid cyst A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. tmpak2llvmy_mondo_relaxed.owl dermoid|benign cystic teratoma|dermoid cyst|subcutaneous cystic teratoma|teratoma, benign|mature cystic teratoma|dermoid cyst, benign|cystic dermoid choristoma|dermoid tumour|dermoid choristoma|dermoid tumor|teratoma, benign (morphologic abnormality) UMLS:C2355625|NCIT:C9011|ICDO:9084/0|DOID:2658|MESH:D003884|SCTID:441459009|UMLS:C2700593|UMLS:C0011649|EFO:1000894|ICD10:K09.8 owl:Class HGNC:11067 biolink:NamedThing SLC7A9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012669 biolink:NamedThing Legius syndrome Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling. tmpak2llvmy_mondo_relaxed.owl Legius syndrome|neurofibromatosis 1-like syndrome|neurofibromatosis type 1-like syndrome|NF1-like syndrome|neurofibromatosis type 1 like syndrome OMIM:611431|SCTID:703541007|UMLS:C1969623|MESH:C548032|GARD:0010714|ICD10:Q85.0|ICD9:709.09|Orphanet:137605 https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome owl:Class MONDO:0020297 biolink:NamedThing Noonan syndrome and Noonan-related syndrome tmpak2llvmy_mondo_relaxed.owl MESH:C537846|Orphanet:98733|UMLS:CN166718 owl:Class MONDO:0019635 biolink:NamedThing idiopathic achalasia Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition. tmpak2llvmy_mondo_relaxed.owl achalasia cardia|idiopathic achalasia of esophagus|primary achalasia UMLS:C1860213|Orphanet:930|ICD10:K22.0|UMLS:C0859976|SCTID:715192004|MedDRA:10036669|GARD:0005708 owl:Class MONDO:0700007 biolink:NamedThing idiopathic disease A disease or disorder for which the cause is of uncertain or unknown. tmpak2llvmy_mondo_relaxed.owl idiopathic disorder http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3169 owl:Class MONDO:0013281 biolink:NamedThing COG4-CDG COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type 2j|CDG IIj|carbohydrate deficient glycoprotein syndrome type IIj|CDG-IIj|congenital disorder of glycosylation, type IIj|COG4-CDG (CDG-IIj)|COG4-CDG|CDG2J|CDG syndrome type IIj|congenital disorder of glycosylation type IIj DOID:0070262|SCTID:718751000|UMLS:C3150736|ICD10:E77.8|GARD:0012412|Orphanet:263501|OMIM:613489 owl:Class MONDO:0017750 biolink:NamedThing defect in conserved oligomeric Golgi complex tmpak2llvmy_mondo_relaxed.owl defect in COG complex ICD10:E77.8|Orphanet:309568 owl:Class MONDO:0016334 biolink:NamedThing neuromuscular disease with dilated cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:217610|UMLS:CN201165 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neuromuscular disease' MONDO_0019056 owl:Class MONDO:0016333 biolink:NamedThing familial dilated cardiomyopathy A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. tmpak2llvmy_mondo_relaxed.owl DCM|dilated cardiomyopathy, familial|idiopathic dilated cardiomyopathy|hereditary dilated cardiomyopathy|hypokinetic dilated cardiomyopathy, familial MESH:C536231|UMLS:C0340427|ICD10:I42.0|GARD:0000221|GARD:0002905|Orphanet:217607|OMIMPS:115200 Editor note: unsure if GARD is familial form owl:Class GO:2000463 biolink:NamedThing positive regulation of excitatory postsynaptic potential Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpak2llvmy_mondo_relaxed.owl positive regulation of EPSP|positive regulation of excitatory post-synaptic membrane potential owl:Class GO:0050789 biolink:NamedThing regulation of biological process Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpak2llvmy_mondo_relaxed.owl regulation of physiological process owl:Class MONDO:0005280 biolink:NamedThing prostatitis An infectious or non-infectious inflammatory process affecting the prostate gland. tmpak2llvmy_mondo_relaxed.owl prostatitis (disease)|inflammation of prostate gland|prostate gland inflammation|prostatitis prostatitis (disease) DOID:14654|ICD9:601.8|SCTID:9713002|ICD9:601.4|ICD9:601.9|UMLS:C0033581|MESH:D011472|ICD10:N41.9|NCIT:C26866|EFO:0003830|ICD9:601|ICD10:N41|HP:0000024 owl:Class MONDO:0003105 biolink:NamedThing prostate disease A disease involving the prostate gland. tmpak2llvmy_mondo_relaxed.owl disorder of prostate gland|disease or disorder of prostate gland|prostate disease|prostate gland disease|disease of prostate gland|prostate disorder|prostate gland disease or disorder ICD10:N42.9|DOID:47|ICD9:602.8|SCTID:30281009|ICD9:602.9|NCIT:C26865|UMLS:C0033575|MESH:D011469 owl:Class UBERON:0009479 biolink:NamedThing ectoderm of buccopharyngeal membrane An ectoderm that is part of a buccopharyngeal membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000924 biolink:NamedThing ectoderm Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. tmpak2llvmy_mondo_relaxed.owl embryonic ectoderm owl:Class CL:1001572 biolink:NamedThing colon endothelial cell A vascular endothelial cell found in colon blood vessels. tmpak2llvmy_mondo_relaxed.owl colonic endothelial cell|colon endothelial cells CALOHA:TS-2397 owl:Class CL:0011108 biolink:NamedThing colon epithelial cell Epithelial cell that is part of the colon epithelium. tmpak2llvmy_mondo_relaxed.owl colonic epithelial cell owl:Class MONDO:0015659 biolink:NamedThing infectious disease with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN200068|Orphanet:166490 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: infectious disease' MONDO_0005550 owl:Class MONDO:0005027 biolink:NamedThing epilepsy A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. tmpak2llvmy_mondo_relaxed.owl seizure disorder|epilepsy DOID:1826|NCIT:C3020|MESH:D004827|ICD9:345|ICD10:G40|SCTID:84757009|ICD9:345.80|EFO:0000474|ICD9:345.9|ICD9:345.91|ICD9:345.8|ICD10:G40.909|NIFSTD:birnlex_12718|ICD9:345.90|ICD10:G40.9 owl:Class MONDO:0020341 biolink:NamedThing periventricular nodular heterotopia Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. tmpak2llvmy_mondo_relaxed.owl periventricular heterotopia|periventricular nodular heterotopia Orphanet:98892|OMIMPS:300049|DOID:0050454|MedDRA:10066854|ICD10:Q04.8|GARD:0012724|UMLS:C1868720|MESH:D054091 owl:Class MONDO:0036511 biolink:NamedThing childhood malignant kidney neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. tmpak2llvmy_mondo_relaxed.owl childhood kidney cancer|childhood malignant kidney tumor|kidney cancer of childhood|childhood malignant kidney neoplasm|pediatric kidney cancer|childhood malignant renal neoplasm|childhood malignant renal tumor UMLS:C4086162|NCIT:C123907 owl:Class MONDO:0006517 biolink:NamedThing childhood malignant neoplasm A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). tmpak2llvmy_mondo_relaxed.owl malignant pediatric tumor|malignant childhood tumor|childhood neoplasm, malignant|malignant neoplasm|malignant pediatric neoplasm|childhood cancer|childhood malignant neoplasm|pediatric cancer|malignant childhood neoplasm NCIT:C4005|EFO:1000654|UMLS:C0278704 owl:Class MONDO:0008114 biolink:NamedThing obsessive-compulsive disorder A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. tmpak2llvmy_mondo_relaxed.owl OCD|Anancastic neurosis|obsessive-compulsive disorder|obsessive compulsive disorder ICD9:300.3|OMIM:164230|DOID:10933|MESH:D009771|ICD10:F42|NCIT:C88411|SCTID:191736004|EFO:0004242 owl:Class MONDO:0014270 biolink:NamedThing STT3A-CDG STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type Iw|congenital disorder of glycosylation type 1w|CDG-Iw|CDG1W|CDG syndrome type Iw|CDG Iw|STT3A-CDG|congenital disorder of glycosylation, type Iw ICD10:E77.8|SCTID:733111000|OMIM:615596|UMLS:C3810062|Orphanet:370921|DOID:0080572 owl:Class MONDO:0018284 biolink:NamedThing congenital disorder of glycosylation with neurological involvement tmpak2llvmy_mondo_relaxed.owl CDG with neurological involvement 2022-03-01 ICD10:E77.8|Orphanet:371047 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class MONDO:0035133 biolink:NamedThing PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:589905 owl:Class MONDO:0016565 biolink:NamedThing syndromic genetic obesity tmpak2llvmy_mondo_relaxed.owl syndrome associated with obesity (disease)|syndromic obesity (disease) Orphanet:240371|UMLS:CN226963 owl:Class MONDO:0001424 biolink:NamedThing sarcoid meningitis Meningitis that arises from sarcoidosis. tmpak2llvmy_mondo_relaxed.owl meningitis in sarcoidosis SCTID:192673008|ICD10:D86.81|ICD9:321.4|UMLS:C0154648|DOID:12055 Editor note: consider obsoleting as represents a finding not a disease owl:Class MONDO:0024891 biolink:NamedThing non-infectious meningitis tmpak2llvmy_mondo_relaxed.owl non-infective meningitis UMLS:C0393442|SCTID:230155003 owl:Class MONDO:0020697 biolink:NamedThing lung epithelial-myoepithelial carcinoma A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative. tmpak2llvmy_mondo_relaxed.owl lung epithelial-myoepithelial cancer|lung epithelial-myoepithelial carcinoma NCIT:C45545 owl:Class MONDO:0005138 biolink:NamedThing lung carcinoma A carcinoma that arises from epithelial cells of the lung tmpak2llvmy_mondo_relaxed.owl cancer of lung|cancer of the lung|carcinoma of lung|lung cancer, NOS|lung cancer|carcinoma of the lung|lung carcinoma EFO:0001071|ICD10:C34.90|DOID:3905|NCIT:C4878|UMLS:C0684249 owl:Class CL:1000286 biolink:NamedThing smooth muscle cell of rectum A smooth muscle cell that is part of the rectum. tmpak2llvmy_mondo_relaxed.owl smooth muscle fiber of rectum|non-striated muscle fiber of rectum FMA:17522 cell owl:Class CL:0002504 biolink:NamedThing enteric smooth muscle cell A smooth muscle cell of the intestine. tmpak2llvmy_mondo_relaxed.owl intestinal smooth muscle cell tmeehan 2011-01-17T03:39:38Z cell owl:Class CL:0000652 biolink:NamedThing pinealocyte This cell type produces and secretes melatonin and forms the pineal parenchyma. Extending from each cell body, which has a spherical, oval or lobulated mucleus, are one or more tortuous basophilic processes, containing parallel microtubules known as synaptic ribbons. These processes end in expanded terminal buds near capillaries or less, frequently, ependymal cells of the pineal recess. The terminal buds contain granular endoplasmic reticulum, mitochondria and electron-dense cored vesicles, which store monoamines and polypeptide hormones, release of which appears to require sympathetic innervation. tmpak2llvmy_mondo_relaxed.owl FMA:83417|BTO:0001068 cell owl:Class CL:0000710 biolink:NamedThing neurecto-epithelial cell Epithelial cells derived from neural plate and neural crest. tmpak2llvmy_mondo_relaxed.owl neuroepithelial cell BTO:0004301|FMA:70557 The term "neuroepithelial cell" is used to describe both this cell type and sensory epithelial cell (CL:0000098). cell owl:Class MONDO:0016321 biolink:NamedThing pulmonary interstitial glycogenosis Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD). tmpak2llvmy_mondo_relaxed.owl infantile cellular interstitial pneumonitis|pig ICD10:J84.842|Orphanet:217557|ICD10:P22.8|SCTID:707551007|UMLS:C3161106 owl:Class MONDO:0017019 biolink:NamedThing interstitial lung disease specific to infancy tmpak2llvmy_mondo_relaxed.owl ILD specific to infancy UMLS:CN202332|Orphanet:264694 owl:Class MONDO:0010787 biolink:NamedThing Kearns-Sayre syndrome Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. tmpak2llvmy_mondo_relaxed.owl ophthalmoplegia plus syndrome|Kearns-Sayre syndrome|oculocraniosomatic syndrome|ophthalmoplegia-plus syndrome|CPEO with ragged-Red fibers|mitochondrial Cytopathy|KSS|ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy|CPEO with myopathy|ophthalmoplegia, progressive external, with ragged-Red fibers|chronic progressive external ophthalmoplegia with myopathy|CPEO with ragged red fibers|ophthalmoplegia, progressive external, with ragged red fibers MedDRA:10048804|OMIM:530000|MESH:D007625|Orphanet:480|DOID:12934|ICD10:H49.8|GARD:0006817|SCTID:25792000|UMLS:C0022541|NCIT:C84798|ICD10:H49.81 https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome owl:Class MONDO:0016402 biolink:NamedThing mitochondrial disease with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201331|Orphanet:225700 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class MONDO:0024340 biolink:NamedThing retinal neuroblastoma A neuroblastoma arising from the retina. tmpak2llvmy_mondo_relaxed.owl neuroblastoma of the retina|neuroblastoma of retina|retinal neuroblastoma|retina neuroblastoma NCIT:C6956 owl:Class MONDO:0021231 biolink:NamedThing retina neoplasm A neoplasm (disease) that involves the retina. tmpak2llvmy_mondo_relaxed.owl retina neoplasm (disease)|neoplasm of the retina|retina tumor|retinal neoplasm|neoplasm of retina|retinal tumor|tumor of retina|tumor of the retina EFO:1000509|NCIT:C4800 owl:Class MONDO:0007925 biolink:NamedThing chromosome 5q deletion syndrome A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl myelodysplastic syndrome with isolated del(5q)|5q deletion syndrome|chromosome 5q deletion syndrome|5Q- syndrome|MAR|megakaryocytes, unilobular nucleated|5q syndrome|macrocytic Anemia, refractory, due to 5Q deletion|myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality|refractory macrocytic anemia due to 5q deletion|5q- syndrome, refractory macrocytic anemia due to 5q deletion|5Q minus syndrome|myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality|5q- syndrome|myelodysplastic syndrome with 5q deletion GARD:0008723|UMLS:CN206233|OMIM:153550|ICD10:D46.7|NCIT:C6867|Orphanet:86841|DOID:0090016|MESH:C535323|ICDO:9986/3|SCTID:277597005 owl:Class MONDO:0016904 biolink:NamedThing partial deletion of the long arm of chromosome 5 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 5q|partial monosomy of the long arm of chromosome 5|partial deletion of the long arm of chromosome type 5|partial deletion of chromosome 5q Orphanet:262038|ICD10:Q93.5 owl:Class MONDO:0010150 biolink:NamedThing head and neck squamous cell carcinoma A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands. tmpak2llvmy_mondo_relaxed.owl craniocervical region squamous cell carcinoma|HNSCC|SCCHN|squamous cell carcinoma, head and neck|squamous cell carcinoma of the head and neck|head and neck squamous cell carcinoma|carcinoma of the head and neck|squamous cell carcinomas of head and neck|squamous cell carcinoma of head and neck DOID:5520|Orphanet:67037|UMLS:C1168401|ONCOTREE:HNSC|NCIT:C34447|SCTID:716659002|MedDRA:10060121|MESH:C535575|OMIM:275355|EFO:0000181 owl:Class MONDO:0013089 biolink:NamedThing schizophrenia 13 A schizophrenia that has material basis in a mutation on chromosome 15q13. tmpak2llvmy_mondo_relaxed.owl schizophrenia, Neurophysiologic defect 1N|schizophrenia 13|SCZD13|schizophrenia susceptibility locus, chromosome 15Q13-q14-related UMLS:C2751663|OMIM:613025|DOID:0070089 owl:Class MONDO:0005090 biolink:NamedThing schizophrenia A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. tmpak2llvmy_mondo_relaxed.owl schizophrenia|schizoaffective disorder|schizophrenia (disease)|SCZD|schizophrenia-1|schizophrenia with or without an affective disorder schizophrenia (disease) EFO:0000692|SCTID:58214004|ICD9:295|NIFSTD:birnlex_2104|NCIT:C3362|ICD9:295.90|OMIM:181500|DOID:5419|ICD9:295.9|HP:0100753|ICD9:295.85|ICD9:295.80|ICD9:295.8 owl:Class CHEBI:23123 biolink:NamedThing chloroacetate A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid. tmpak2llvmy_mondo_relaxed.owl monochloroacetate anion|chloroacetate|Chloroacetic acid ion(1-)|chloroacetate(1-)|mono-chloroacetate|monochloroacetic acid anion|chloroacetate anion owl:Class CHEBI:85638 biolink:NamedThing haloacetate(1-) A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid. tmpak2llvmy_mondo_relaxed.owl a haloacetate|haloacetate (1-) owl:Class MONDO:0015617 biolink:NamedThing genetic gastro-esophageal disease tmpak2llvmy_mondo_relaxed.owl Orphanet:165658|UMLS:CN199993 owl:Class MONDO:0015111 biolink:NamedThing gastroesophageal disease tmpak2llvmy_mondo_relaxed.owl Orphanet:101936|UMLS:CN197468 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0021283 biolink:NamedThing malignant teratoma of mediastinum A malignant teratoma that involves the mediastinum. tmpak2llvmy_mondo_relaxed.owl malignant teratoma of the mediastinum|mediastinal immature malignant teratoma|immature malignant teratoma of the mediastinum|immature malignant teratoma of mediastinum|malignant mediastinal teratoma|mediastinum malignant teratoma UMLS:C0349663|NCIT:C4668|SCTID:278042005 owl:Class MONDO:0003514 biolink:NamedThing malignant teratoma A malignant form of teratoma. tmpak2llvmy_mondo_relaxed.owl malignant extragonadal teratoma|teratoma, malignant DOID:5563|NCIT:C4287 owl:Class MONDO:0016335 biolink:NamedThing mitochondrial disease with dilated cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201166|Orphanet:217613 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class GO:0045620 biolink:NamedThing negative regulation of lymphocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of lymphocyte differentiation|down regulation of lymphocyte differentiation|down-regulation of lymphocyte differentiation|downregulation of lymphocyte differentiation|negative regulation of lymphocyte development owl:Class GO:0045619 biolink:NamedThing regulation of lymphocyte differentiation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of lymphocyte development owl:Class MONDO:0032873 biolink:NamedThing retinitis pigmentosa 87 with choroidal involvement tmpak2llvmy_mondo_relaxed.owl RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT|RP87 OMIM:618697 owl:Class MONDO:0100452 biolink:NamedThing dominant RPE65 retinopathy A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa 87 with choroidal involvement|RP87|dominant RPE65 retinopathy http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class UBERON:0005038 biolink:NamedThing mucosa of segmental bronchus A mucosa that is part of a segmental bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of segmental bronchus|tertiary bronchus mucosa|tertiary bronchus mucous membrane|segmental bronchus mucous membrane|organ mucosa of segmental bronchus|mucosa of tertiary bronchus|segmental bronchus organ mucosa|segmental bronchus mucosa|tertiary bronchus mucosa of organ|tertiary bronchus organ mucosa|mucous membrane of tertiary bronchus|organ mucosa of tertiary bronchus|mucosa of organ of segmental bronchus|segmental bronchus mucosa of organ|segmental bronchial mucosa|mucosa of organ of tertiary bronchus owl:Class UBERON:0000410 biolink:NamedThing bronchial mucosa A mucosa that is part of a bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchi mucosa|tunica mucosa bronchi|bronchus organ mucosa|bronchial trunk mucosa|organ mucosa of bronchus|organ mucosa of bronchi|bronchi organ mucosa|bronchial trunk organ mucosa|bronchial trunk mucous membrane|mucosa of bronchi|bronchus mucosa of organ|mucosa of bronchus|mucosa of bronchial trunk|mucous membrane of bronchi|organ mucosa of bronchial trunk|mucosa of organ of bronchi|bronchi mucous membrane|bronchus mucosa|bronchus mucous membrane|mucosa of organ of bronchus|bronchial trunk mucosa of organ|mucous membrane of bronchus|mucosa of organ of bronchial trunk|bronchi mucosa of organ|mucous membrane of bronchial trunk owl:Class CHEBI:35604 biolink:NamedThing carbon oxoanion A negative ion consisting solely of carbon and oxygen atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n. tmpak2llvmy_mondo_relaxed.owl oxocarbon anions|carbon oxoanions|carbon oxoanion|oxocarbon anion owl:Class CHEBI:35406 biolink:NamedThing oxoanion An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen. tmpak2llvmy_mondo_relaxed.owl oxoacid anions|oxoanions|oxoanion owl:Class UBERON:0003575 biolink:NamedThing wrist connective tissue A portion of connective tissue that is part of a wrist [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl carpal region connective tissue|connective tissue of carpal region|connective tissue of wrist owl:Class UBERON:0003598 biolink:NamedThing manus connective tissue A portion of connective tissue that is part of a hand [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hand connective tissue|connective tissue of terminal segment of free upper limb|connective tissue of hand owl:Class UBERON:0012489 biolink:NamedThing muscle layer of colon A muscular coat that is part of a colon. tmpak2llvmy_mondo_relaxed.owl tunica muscularis coli|muscularis externa of colon|colon muscularis|muscular layer of colon|muscular coat of colon|colonic muscularis propria owl:Class UBERON:0011198 biolink:NamedThing muscle layer of large intestine A muscle layer that is part of a large intestine. tmpak2llvmy_mondo_relaxed.owl muscular layer of large intestine|muscular coat of large intestine|tunica muscularis intestini crassi|muscularis externa of large intestine owl:Class HGNC:24316 biolink:NamedThing TACO1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021446 biolink:NamedThing benign neoplasm of epiglottis A benign neoplasm that involves the epiglottis. tmpak2llvmy_mondo_relaxed.owl benign tumor of the Epiglottis|epiglottis benign neoplasm|benign neoplasm of the Epiglottis|benign Epiglottis tumor|benign epiglottic neoplasm|benign Epiglottis neoplasm|benign tumor of Epiglottis|benign epiglottic tumor SCTID:92089006|UMLS:C0347236|NCIT:C4606 owl:Class MONDO:0005165 biolink:NamedThing benign neoplasm A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl cell type benign neoplasm|benign neoplasm|neoplasm (disease), benign|benign unclassifiable tumor|benign tumor|neoplasm, benign|benign neoplasm (disease)|organ system benign neoplasm EFO:0002422|ICD9:210-229.99|ICD9:229.9|DOID:0060084|NCIT:C3677|ICDO:8000/0|ICD10:D10.D36|SCTID:20376005|ICD9:229.8|DOID:0060072|DOID:0060085 Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 owl:Class UBERON:0007213 biolink:NamedThing mesenchyme derived from head neural crest Mesenchyme that develops_from a cranial neural crest. tmpak2llvmy_mondo_relaxed.owl head neural crest derived mesenchyme|head mesenchyme from cranial neural crest|head mesenchyme from neural crest owl:Class UBERON:0014387 biolink:NamedThing mesenchyme derived from neural crest Mesenchyme that develops_from the neural crest[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl neural crest derived mesenchyme|neural crest mesenchyme|mesenchyme from neural crest owl:Class GO:0005244 biolink:NamedThing voltage-gated ion channel activity Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpak2llvmy_mondo_relaxed.owl voltage-dependent ion channel activity|voltage gated ion channel activity owl:Class GO:0015075 biolink:NamedThing ion transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl ion transporter activity owl:Class MONDO:0002387 biolink:NamedThing liver angiosarcoma A malignant vascular neoplasm arising from the liver. tmpak2llvmy_mondo_relaxed.owl hepatic hemangiosarcoma|liver angiosarcoma (disease)|hemangiosarcoma of the liver|primary angiosarcoma of liver|Lias|hemangiosarcoma of liver|hepatic angiosarcoma|angiosarcoma (disease) of liver|liver angiosarcoma|primary angiosarcoma of the liver|angiosarcoma of the liver|liver hemangiosarcoma|angiosarcoma of liver ICDO:9124/3|NCIT:C4438|ICD10:C22.3|SCTID:109844006|GARD:0005813|ONCOTREE:LIAS|UMLS:C0345907|DOID:268 https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver owl:Class MONDO:0002405 biolink:NamedThing hepatic vascular disease A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma. tmpak2llvmy_mondo_relaxed.owl vascular disorder of liver|liver vascular disorder|hepatic vascular disorder ICD9:573.8|SCTID:235878005|NCIT:C35442|DOID:272|UMLS:C0400923 owl:Class MONDO:0001155 biolink:NamedThing gastrojejunal ulcer tmpak2llvmy_mondo_relaxed.owl acute gastrojejunal ulcer with hemorrhage|chronic gastrojejunal ulcer without hemorrhage and without perforation|acute gastrojejunal ulcer with perforation and obstruction|acute gastrojejunal ulcer, with hemorrhage, with obstruction|acute gastrojejunal ulcer with hemorrhage and obstruction|acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer with perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction|chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer with hemorrhage and perforation|acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer with perforation|acute gastrojejunal ulcer without hemorrhage and without perforation UMLS:C0156042|UMLS:C0156050|UMLS:C0156048|UMLS:C0156047|SCTID:4269005|ICD9:534.0|UMLS:C0156044|UMLS:C0156045|ICD10:K28.0|DOID:10927 owl:Class MONDO:0004247 biolink:NamedThing peptic ulcer disease A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding. tmpak2llvmy_mondo_relaxed.owl acute peptic ulcer with hemorrhage|acute peptic ulcer with hemorrhage and perforation|peptic ulcer|acute peptic ulcer without hemorrhage and without perforation UMLS:C0030920|MESH:D010437|ICD9:533|SCTID:13200003|DOID:750|NCIT:C3318|ICD10:K27 owl:Class HGNC:6553 biolink:NamedThing LEP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021158 biolink:NamedThing gonococcal epididymo-orchitis tmpak2llvmy_mondo_relaxed.owl UMLS:C0341782|SCTID:236772009 owl:Class MONDO:0004277 biolink:NamedThing gonorrhea A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease. tmpak2llvmy_mondo_relaxed.owl papular acrodermatitis of childhood|infections, Neisseria gonorrhoeae|Gianotti Crosti syndrome|GC|acrodermatitis, infantile lichenoid|PAC|acrodermatitis, papular infantile|chronic gonococcal infectious disease of lower genitourinary tract|Neisseria gonorrhoeae infection|chronic gonococcal infectious disease of upper genitourinary tract|Crosti-gianotti syndrome|PAS ICD9:098.89|GARD:0006499|ICD10:A54.9|MESH:D006069|ICD9:098.32|ICD10:A54|ICD9:098|SCTID:15628003|NCIT:C92950|ICD9:098.2|DOID:7551|UMLS:C0018081 owl:Class UBERON:0005085 biolink:NamedThing ectodermal placode An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] tmpak2llvmy_mondo_relaxed.owl epithelial placode owl:Class UBERON:0001048 biolink:NamedThing primordium Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. tmpak2llvmy_mondo_relaxed.owl primordia|placode|rudiment|future organ|bud owl:Class MONDO:0008433 biolink:NamedThing small cell lung carcinoma Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure. tmpak2llvmy_mondo_relaxed.owl small cell neuroendocrine carcinoma of lung|SCLC1|oat cell carcinoma (morphologic abnormality)|lung small cell carcinoma|small cell carcinoma of the lung|oat cell carcinoma of lung|oat cell carcinoma|small cell cancer of the lung|lung oat cell carcinoma|oat cell carcinoma of the lung|small cell carcinoma of lung|SCLC|poorly differentiated endocrine neoplasm|small cell neuroendocrine carcinoma of the lung|lung small cell neuroendocrine carcinoma|oat cell lung carcinoma|small cell lung cancer EFO:0000702|NCIT:C4917|OMIM:182280|DOID:5411|UMLS:C0262584|ICD9:162.9|ONCOTREE:SCLC|ICD10:C34.9|SCTID:254632001|MESH:D055752|DOID:5409|UMLS:CN244903|Orphanet:70573|KEGG:05222 owl:Class MONDO:0036781 biolink:NamedThing benign axillary neoplasm A non-metastasizing neoplasm that arises from the structures of the axilla. tmpak2llvmy_mondo_relaxed.owl axillary neoplasm, benign|benign axillary neoplasm NCIT:C35750|UMLS:C0684828 owl:Class MONDO:0000634 biolink:NamedThing thoracic benign neoplasm A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the thorax|thoracic segment of trunk benign neoplasm|benign thoracic tumor|benign tumor of thorax|benign tumor of the thorax|benign neoplasm of thorax|benign thoracic neoplasm SCTID:255059002|ICD9:229.8|UMLS:C0346440|DOID:0060097|NCIT:C4565 MONDO:0021448 owl:Class MONDO:0014057 biolink:NamedThing maple syrup urine disease, mild variant tmpak2llvmy_mondo_relaxed.owl maple syrup urine disease, mild variant|MSUDMV UMLS:C3554575|OMIM:615135 owl:Class MONDO:0017052 biolink:NamedThing intermediate maple syrup urine disease Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. tmpak2llvmy_mondo_relaxed.owl Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency|Intermediate branched-chain 2-ketoacid dehydrogenase deficiency|Intermediate BCKD deficiency|intermediate maple syrup urine disease|Intermediate MSUD ICD10:E71.0|SCTID:405287008|Orphanet:268162 owl:Class MONDO:0006355 biolink:NamedThing parotid gland acinic cell carcinoma An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area. tmpak2llvmy_mondo_relaxed.owl acinic cell carcinoma of parotid|acinic cell carcinoma of the parotid|acinic cell carcinoma of the parotid gland|parotid gland acinar cell carcinoma|parotid gland acinic cell carcinoma|acinic cell carcinoma of parotid gland|parotid acinic cell carcinoma UMLS:C1335353|EFO:1000458|NCIT:C5933 owl:Class MONDO:0021331 biolink:NamedThing carcinoma of parotid gland A carcinoma that involves the parotid gland. tmpak2llvmy_mondo_relaxed.owl parotid gland cancer|carcinoma of the parotid|parotid carcinoma|parotid gland carcinoma|carcinoma of parotid|carcinoma of parotid gland|carcinoma of the parotid gland EFO:1000460|UMLS:C0345602|NCIT:C6791|SCTID:254462001 owl:Class HP:0100872 biolink:NamedThing Abnormality of the plantar skin of foot An abnormality of the plantar part of foot, that is of the soles of the feet. tmpak2llvmy_mondo_relaxed.owl Minor feet anomalies UMLS:C4020946 doelkens 2011-11-30T11:23:05Z HP:0010613 human_phenotype owl:Class HP:0011356 biolink:NamedThing Regional abnormality of skin An abnormality of the skin that is restricted to a particular body region. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023402 peter 2012-03-01T02:39:14Z human_phenotype owl:Class MONDO:0003767 biolink:NamedThing mitral valve disease A disease involving the mitral valve. tmpak2llvmy_mondo_relaxed.owl chronic rheumatic mitral valve|rheumatic disease of mitral valve|disorder of mitral valve|disease of mitral valve|rheumatic mitral valve changes|rheumatic mitral valve incompetence|mitral RH valve dis.|mitral valve disease or disorder|mitral valve disease|disease or disorder of mitral valve|rheumatic mitral insufficiency|mitral valve disorder|rheumatic mitral valve regurgitation ICD9:394.9|ICD9:394|ICD10:I05.9|ICD10:I05|UMLS:C0026265|ICD10:I05.1|ICD9:424.0|NCIT:C78446|SCTID:11851006|ICD9:394.1|DOID:61|UMLS:C2939153 owl:Class FOODON:03304511 biolink:NamedThing seafood newburg (dish) tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F4511 SIREN DB annotation: * has quality 'semiliquid with solid pieces' (http://purl.obolibrary.org/obo/FOODON_03430110) * has quality 'fully heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440014) * derives from 'skeletal meat part, without bone or shell' (http://purl.obolibrary.org/obo/FOODON_03420125) * formed as a result of 'alcoholated' (http://purl.obolibrary.org/obo/FOODON_03460160) * has substance added 'spice or herb added' (http://purl.obolibrary.org/obo/FOODON_03460151) * has substance added http://purl.obolibrary.org/obo/FOODON_03460185 * has substance added 'dairy product added' (http://purl.obolibrary.org/obo/FOODON_03460242) * immersed in 'packed in gravy or sauce' (http://purl.obolibrary.org/obo/FOODON_03480034) http://langual.org subset_siren owl:Class FOODON:00002471 biolink:NamedThing prepared seafood product tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004572 biolink:NamedThing cyclothymic disorder An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood. tmpak2llvmy_mondo_relaxed.owl cyclothymia|cycloid personality|affective personality disorder|cyclothymic personality SCTID:76105009|ICD9:301.1|ICD9:301.13|MESH:D003527|ICD9:301.10|DOID:845|ICD10:F34.0 owl:Class MONDO:0005371 biolink:NamedThing mood disorder A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature. tmpak2llvmy_mondo_relaxed.owl episodic mood disorder ICD9:296.99|UMLS:CN236678|ICD10:F39|SCTID:46206005|MESH:D019964|ICD10:F30-F39|EFO:0004247|DOID:3324|NCIT:C92200|ICD10:F30.F39 owl:Class MONDO:0013547 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 3 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E|mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type|mitochondrial complex V (ATP synthase) deficiency, nuclear type 3|ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency|MC5DN3 DOID:0060332|ICD10:E88.8|OMIM:614053|UMLS:C3279708 owl:Class MONDO:0000066 biolink:NamedThing mitochondrial complex deficiency tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005629 biolink:NamedThing Acanthamoeba keratitis Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear. tmpak2llvmy_mondo_relaxed.owl keratitis, Acanthamoeba|Acanthamoeba caused keratitis SCTID:231896005|NCIT:C50450|GARD:0009285|ICD10:H19.2*|UMLS:C0000880|ICD9:370.8|ICD10:B60.1+|MedDRA:10069408|EFO:0007126|MESH:D015823|Orphanet:67043 https://rarediseases.info.nih.gov/diseases/9285/acanthamoeba-keratitis owl:Class MONDO:0002428 biolink:NamedThing protozoa infectious disease An infection that is caused by protozoans. tmpak2llvmy_mondo_relaxed.owl sarcomastigophora infectious disease|Mastigophora infectious disease|protozoal infection|parasitic protozoa infectious disease MESH:D011528|NCIT:C34953|ICD10:B64|DOID:2789|ICD10:B50-B64 owl:Class UBERON:8400021 biolink:NamedThing liver serosa Hepatic serous coat; peritoneal covering of the liver, enclosing almost all except for a triangular area on its posterior surface (the "bare area of the liver") and a smaller area where the liver and gallbladder are in direct contact. tmpak2llvmy_mondo_relaxed.owl tunica serosa hepatis|serosa of liver owl:Class UBERON:0000077 biolink:NamedThing mixed endoderm/mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002367 biolink:NamedThing prostate gland The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid. tmpak2llvmy_mondo_relaxed.owl prostata|male prostate|prostate owl:Class MONDO:0023597 biolink:NamedThing laryngeal papillomatosis Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11. tmpak2llvmy_mondo_relaxed.owl Warts in the throat|recurrent laryngeal papillomatosis|juvenile laryngeal papillomatosis (subtype)|recurrent laryngeal papillomatosis (subtype)|juvenile laryngeal papillomatosis|laryngeal papillomatosis UMLS:C0396072|SCTID:232457008|MESH:C537876|GARD:0006864 Editor note: compare with MONDO:0000935 https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis owl:Class MONDO:0018955 biolink:NamedThing recurrent respiratory papillomatosis Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive. tmpak2llvmy_mondo_relaxed.owl juvenile-onset recurrent respiratory papillomatosis (type)|adult-onset recurrent respiratory papillomatosis (type)|RRP|juvenile laryngeal papilloma|AORRP (type)|JORRP (type)|respiratory papillomatosis, recurrent|recurrent respiratory papillomatosis|laryngeal papilloma, recurrent SCTID:472827002|GARD:0000111|MESH:C535297|NCIT:C128637|UMLS:C1168198|Orphanet:60032|ICD9:078.19|MedDRA:10059314 https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis owl:Class MONDO:0009931 biolink:NamedThing pulmonary atresia-intact ventricular septum syndrome Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation. tmpak2llvmy_mondo_relaxed.owl pulmonary valve atresia with intact ventricular septum|pulmonary atresia with intact ventricular septum ICD10:Q22.6|OMIM:265150|NCIT:C99032|UMLS:C0344975|SCTID:253590009|GARD:0004600|MESH:C562832|Orphanet:1208 owl:Class MONDO:0020291 biolink:NamedThing hypoplastic right heart syndrome Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia. tmpak2llvmy_mondo_relaxed.owl right hypoplastic heart syndrome SCTID:268180007|MedDRA:10064962|DOID:0070315|Orphanet:98723|MedDRA:10050053|ICD10:Q22.6|ICD9:746.89|NCIT:C99053|UMLS:C0344963|GARD:0002922 https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome owl:Class MONDO:0011583 biolink:NamedThing cerebral amyloid angiopathy, APP-related A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3. tmpak2llvmy_mondo_relaxed.owl cerebral amyloid angiopathy, APP-related|cerebral amyloid angiopathy, APP-related, Flemish variant|cerebral amyloid angiopathy, APP-related, Italian variant|amyloidosis, Cerebroarterial, APP-related|cerebral amyloid angiopathy, APP-related, Iowa variant|APP-related cerebral amyloid angiopathy|amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant|cerebral amyloid angiopathy, APP-related, Arctic variant|cerebral amyloid angiopathy, APP-related, Dutch variant|HCHWAD OMIM:605714|DOID:0070028|UMLS:C3888308|UMLS:C2751536|UMLS:C2751494|UMLS:C3888309|UMLS:C3888307 owl:Class MONDO:0005620 biolink:NamedThing cerebral amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. tmpak2llvmy_mondo_relaxed.owl dutch hereditary cerebral amyloid angiopathy|hereditary cerebral haemorrhage with amyloidosis - Dutch type|CAA, familial|cerebral amyloid angiopathy, familial|HCHWA|cerebral amyloid angiopathy, genetic DOID:9246|SCTID:230724001|ICD10:E85.4+|EFO:0006790|MESH:D016657|ICD9:277.39|GARD:0010266|ICD10:I68.0*|NCIT:C84625|ICD10:I68.0|Orphanet:85458 owl:Class MONDO:0013462 biolink:NamedThing fucosyltransferase 6 deficiency tmpak2llvmy_mondo_relaxed.owl fucosyltransferase 6 deficiency UMLS:C3151219|OMIM:613852 owl:Class MONDO:0003847 biolink:NamedThing Mendelian disease A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. tmpak2llvmy_mondo_relaxed.owl hereditary diseases|hereditary disease or disorder|familial disorder|hereditary disease|inherited disease|inherited genetic disease|inborn disorder|molecular disease|genetic condition|genetic disease|genetic disorder NCIT:C3101|EFO:0000508|UMLS:C0019247|DOID:630|ICD9:799.89|MESH:D030342|SCTID:32895009 Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. owl:Class BFO:0000141 biolink:NamedThing immaterial entity tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000004 biolink:NamedThing independent continuant A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything.|b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])|b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])|A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. tmpak2llvmy_mondo_relaxed.owl IndependentContinuant ic an organism|the bottom right portion of a human torso|a spatial region|a molecule|a heart|an atom|the interior of your mouth|a chair|an orchestra.|a leg (forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002] |(iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002] |(forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001] For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001])|For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002]) owl:Class MONDO:0010060 biolink:NamedThing infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. tmpak2llvmy_mondo_relaxed.owl autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK|ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis|SCA8 (formerly)|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|spinocerebellar ataxia 8, formerly|spinocerebellar ataxia, infantile-onset|mitochondrial DNA depletion syndrome 7|IOSCA|spinocerebellar ataxia, infantile, with sensory neuropathy|spinocerebellar ataxia 8|ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|mitochondrial DNA depletion syndrome 7 (hepatocerebral type)|OHAHA syndrome|TWNK autosomal recessive degenerative and progressive cerebellar ataxia|spinocerebellar ataxia infantile with sensory neuropathy|Ohaha syndrome|mitochondrial DNA depletion syndrome type 7|spinocerebellar ataxia 8 (formerly)|MTDPS7 SCTID:724227000|Orphanet:1186|DOID:0080126|ICD10:G11.1|UMLS:C1849096|DOID:0050556|OMIM:271245|GARD:0004062|MESH:C535523 Editor notes: DO terms may need to be merged. See: https://github.com/monarch-initiative/mondo-build/issues/5 owl:Class MONDO:0020046 biolink:NamedThing autosomal recessive degenerative and progressive cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl Orphanet:98098|UMLS:CN229259 owl:Class GO:0033273 biolink:NamedThing response to vitamin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007584 biolink:NamedThing response to nutrient Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. tmpak2llvmy_mondo_relaxed.owl response to nutrients|nutritional response pathway owl:Class MONDO:0018184 biolink:NamedThing gastric linitis plastica Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl linitis plastica of the stomach|Borrmann gastric cancer type 4 ICD10:C16.9|UMLS:CN204677|Orphanet:36273|SCTID:721629005 owl:Class MONDO:0005017 biolink:NamedThing diffuse gastric adenocarcinoma An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration. tmpak2llvmy_mondo_relaxed.owl carcinoma, diffuse type (morphologic abnormality)|gastric diffuse adenocarcinoma|carcinoma, diffuse type|diffuse type stomach adenocarcinoma|diffuse stomach adenocarcinoma|adenocarcinoma of the linitis plastica type|diffuse gastric adenocarcinoma|diffuse adenocarcinoma of the stomach|diffuse adenocarcinoma of stomach|adenocarcinoma of linitis plastica type|stomach diffuse type adenocarcinoma ONCOTREE:DSTAD|NCIT:C9159|EFO:0000402|DOID:6217 owl:Class MONDO:0014172 biolink:NamedThing spermatogenic failure 12 Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene. tmpak2llvmy_mondo_relaxed.owl azoospermia caused by mutation in NANOS1|NANOS1 azoospermia|SPGF12|spermatogenic failure type 12|spermatogenic failure 12 OMIM:615413|UMLS:C3809427|DOID:0070171 owl:Class MONDO:0018393 biolink:NamedThing male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal. tmpak2llvmy_mondo_relaxed.owl UMLS:CN225947|ICD10:N46|Orphanet:399805 owl:Class MONDO:0011767 biolink:NamedThing autosomal recessive nonsyndromic deafness 31 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene. tmpak2llvmy_mondo_relaxed.owl WHRN autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 31|autosomal recessive deafness 31|autosomal recessive nonsyndromic deafness 31|whirler, mouse, homolog of|deafness, autosomal recessive 31|autosomal recessive nonsyndromic deafness caused by mutation in WHRN|autosomal recessive nonsyndromic deafness type 31|DFNB31 UMLS:C1846839|ICD10:H90.3|OMIM:607084|MESH:C564629|DOID:0110490 owl:Class MONDO:0019588 biolink:NamedThing deafness, autosomal recessive Autosomal recessive form of nonsyndromic deafness. tmpak2llvmy_mondo_relaxed.owl nonsyndromic deafness, autosomal recessive|nonsyndromic genetic deafness, autosomal recessive|autosomal recessive nonsyndromic deafness|autosomal recessive isolated neurosensory deafness type DFNB|deafness, autosomal recessive|autosomal recessive non-syndromic neurosensory deafness type DFNB|autosomal recessive nonsyndromic genetic deafness|autosomal recessive isolated sensorineural deafness type DFNB|autosomal recessive non-syndromic sensorineural deafness type DFNB|deafness, neurosensory nonsyndromic recessive, DFN OMIM:607197|Orphanet:90636|ICD10:H90.3|GARD:0001710|UMLS:C1846647|OMIMPS:220290|MESH:C564609|UMLS:CN206424|DOID:0050565 owl:Class MONDO:0009124 biolink:NamedThing Dubowitz syndrome Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. tmpak2llvmy_mondo_relaxed.owl intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci|Dubowitz syndrome|Dubowitz's syndrome|dwarfism-eczema-peculiar facies syndrome|intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci ICD9:742.8|OMIM:223370|UMLS:C0175691|NCIT:C125591|GARD:0006290|DOID:14796|MedDRA:10059589|MESH:C535718|Orphanet:235|SCTID:2593002|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome owl:Class MONDO:0015329 biolink:NamedThing malformation syndrome with short stature tmpak2llvmy_mondo_relaxed.owl congenital malformation syndrome associated with short stature|congenital malformation syndrome and short stature|malformation syndrome associated with short stature 2022-03-01 Orphanet:139021|UMLS:CN199359|SCTID:205808005 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class MONDO:0009984 biolink:NamedThing late-adult onset retinitis pigmentosa A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa, late-ADULT onset|senile retinitis pigmentosa|retinitis pigmentosa, 'Senile' ICD10:H35.5|MESH:C564840|OMIM:268025|UMLS:C1849400|DOID:0110421 owl:Class MONDO:0019200 biolink:NamedThing retinitis pigmentosa Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa|pericentral pigmentary retinopathy|Rod-cone dystrophy ICD10:H35.52|MESH:D012174|UMLS:C0035334|MedDRA:10038914|OMIMPS:268000|DOID:10584|GARD:0005694|NCIT:C85045|ICD10:H35.5|Orphanet:791|OMIM:268000|SCTID:28835009|UMLS:C4072872 owl:Class OBO:CHR_9606-chr4p1 biolink:NamedThing chr4p1 (Human) tmpak2llvmy_mondo_relaxed.owl 50000000 0 hg38 owl:Class GO:0098687 biolink:NamedThing chromosomal region Any subdivision of a chromosome along its length. tmpak2llvmy_mondo_relaxed.owl chromosome region owl:Class MONDO:0054726 biolink:NamedThing spermatogenic failure 22 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 22|SPGF22 OMIM:617706|DOID:0070177 owl:Class MONDO:0004983 biolink:NamedThing azoospermia Complete absence of spermatozoa in the semen. tmpak2llvmy_mondo_relaxed.owl spermatogenic failure ICD10:N46.0|OMIMPS:258150|DOID:14227|EFO:0000279|SCTID:425558002|ICD9:606.0|UMLS:C0004509|MESH:D053713|ICD10:N46.01 owl:Class UBERON:0007376 biolink:NamedThing outer epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. tmpak2llvmy_mondo_relaxed.owl outer epidermal layer|hypodermis|epidermis|hypoderm|epidermis (sensu Metazoa)|outer epithelial layer owl:Class UBERON:0000483 biolink:NamedThing epithelium Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue|portion of epithelium owl:Class NCBITaxon:1637 biolink:NamedThing Listeria tmpak2llvmy_mondo_relaxed.owl Listerella PMID:10408878|PMID:1899799|PMID:8427807|PMID:9542083|PMID:1713054|PMID:15709360|GC_ID:11|PMID:9226919|PMID:8782674 ncbi_taxonomy owl:Class NCBITaxon:186820 biolink:NamedThing Listeriaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class UBERON:0004199 biolink:NamedThing S-shaped body The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron tmpak2llvmy_mondo_relaxed.owl SSB|stage II nephron owl:Class MONDO:0003337 biolink:NamedThing acute hemorrhagic encephalitis Acute encephalitis that is characterized by bleeding. tmpak2llvmy_mondo_relaxed.owl acute hemorrhagic encephalitis DOID:5224|NCIT:C35796|UMLS:C1332149 owl:Class MONDO:0006009 biolink:NamedThing viral encephalitis Encephalitis resulting from viral infection. tmpak2llvmy_mondo_relaxed.owl Viruses caused encephalitis|Viruses encephalitis|viral encephalitis MedDRA:10058805|EFO:0007538|SCTID:34476008|NCIT:C35302|DOID:646|UMLS:C0243010|Orphanet:98252 Editor note: we place the Orphanet class here as it is implicitly viral owl:Class UBERON:0004185 biolink:NamedThing endodermal part of digestive tract A portions of the gut that is derived from endoderm. tmpak2llvmy_mondo_relaxed.owl endodermal gut|gut endoderm owl:Class UBERON:0004119 biolink:NamedThing endoderm-derived structure An anatomical structure that develops (entirely or partially) from the endoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016778 biolink:NamedThing diphosphotransferase activity Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016772 biolink:NamedThing transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022829 biolink:NamedThing wide pore channel activity Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts. tmpak2llvmy_mondo_relaxed.owl gap junction activity|non-gated, wide pore channel activity owl:Class GO:0015267 biolink:NamedThing channel activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. tmpak2llvmy_mondo_relaxed.owl pore activity|nonselective channel activity|channel-forming toxin activity|pore class transporter activity|alpha-type channel activity|substrate-specific channel activity|channel/pore class transporter activity owl:Class NCBITaxon:39744 biolink:NamedThing Rubulavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2560080 biolink:NamedThing Rubulavirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004126 biolink:NamedThing trabecular layer of ventricle A myocardium trabecular layer that is part of a cardiac ventricle. tmpak2llvmy_mondo_relaxed.owl trabecular cardiac ventricle muscle|myocardium of region of ventricle|ventricular trabecular myocardium owl:Class UBERON:0004124 biolink:NamedThing myocardium trabecular layer The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. In zebrafish, unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae have more strut-like character, and are more uniform without apparent regional differences[ZFA]. tmpak2llvmy_mondo_relaxed.owl heart muscle trabeculae|trabeculae|trabecula of heart muscle|trabecular layer|myocardial trabecular layer|myocardial trabeculae carneae|heart muscle trabecula owl:Class UBERON:0000078 biolink:NamedThing mixed ectoderm/mesoderm/endoderm-derived structure An anatomical structure that develops from the ectoderm, mesoderm and endoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004121 biolink:NamedThing ectoderm-derived structure An anatomical structure that develops (entirely or partially) from the ectoderm. tmpak2llvmy_mondo_relaxed.owl ectodermal deriviative owl:Class MONDO:0009735 biolink:NamedThing Netherton syndrome Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. tmpak2llvmy_mondo_relaxed.owl neth|Ns|Netherton syndrome|bamboo hair syndrome|erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE|Netherton disease|Comèl-Netherton syndrome|NS|CoMèl-Netherton syndrome|Comel-Netherton syndrome MedDRA:10062909|OMIM:256500|ICD10:Q80.8|MESH:D056770|NCIT:C84922|SCTID:312514006|GARD:0007182|DOID:0050474|Orphanet:634 https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome owl:Class MONDO:0017265 biolink:NamedThing autosomal recessive congenital ichthyosis Autosomal recessive form of inherited ichthyosis. tmpak2llvmy_mondo_relaxed.owl autosomal recessive inherited ichthyosis|ARCI|inherited ichthyosis, autosomal recessive|ichthyosis, congenital, autosomal recessive OMIMPS:242300|DOID:0060655|Orphanet:281097 Editor note: ORDO classifies as non-syndromic but syndromic forms exist owl:Class MONDO:0019409 biolink:NamedThing idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. tmpak2llvmy_mondo_relaxed.owl idiopathic juvenile osteoporosis|juvenile osteoporosis|osteoporosis, juvenile|Pediatric osteoporosis|idiopathic osteoporosis|Ijo ICD9:733.02|ICD10:M81.5|Orphanet:85193|OMIM:259750|UMLS:CN536248|MESH:C537700|SCTID:3345002|GARD:0006760|NCIT:C119996|DOID:12559 owl:Class MONDO:0005298 biolink:NamedThing osteoporosis A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). tmpak2llvmy_mondo_relaxed.owl fracture, hip, susceptibility to|osteoporosis, involutional GARD:0011932|ICD9:733.09|NCIT:C3298|ICD10:M81.0|EFO:0003882|OMIM:166710|MESH:D010024|ICD9:733.0|SCTID:64859006|ICD9:733.00|DOID:11476|ICD10:M81 owl:Class MONDO:0005043 biolink:NamedThing hyperplasia An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. tmpak2llvmy_mondo_relaxed.owl hyperplastic|hyperplasia NCIT:C3113|EFO:0000536|MESH:D006965 owl:Class MONDO:0045024 biolink:NamedThing cancer or benign tumor Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. tmpak2llvmy_mondo_relaxed.owl cell proliferation disorder|neoplasm owl:Class MONDO:0019816 biolink:NamedThing anomaly of the tricuspid subvalvular apparatus tmpak2llvmy_mondo_relaxed.owl Orphanet:95463|ICD10:Q22.8 owl:Class MONDO:0020289 biolink:NamedThing congenital tricuspid malformation tmpak2llvmy_mondo_relaxed.owl ICD10:Q22.8|Orphanet:98721|HP:0001702|ICD10:Q22.4|ICD10:Q22.5|ICD10:Q22.9 owl:Class MONDO:0006507 biolink:NamedThing hereditary hemochromatosis An inherited metabolic disorder characterized by iron accumulation in the tissues. tmpak2llvmy_mondo_relaxed.owl haemochromatosis|hemochromatosis, hereditary|diabetes bronze|hemochromatosis|iron storage disorder EFO:1000642|SCTID:35400008|ICD10:E83.11|GARD:0010746|NCIT:C84481|DOID:2352|OMIMPS:235200|ICD10:E83.110|MESH:D006432|ICD10:E83.119 Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052 https://github.com/monarch-initiative/mondo/issues/3557 owl:Class MONDO:0017763 biolink:NamedThing disorder of iron metabolism and transport tmpak2llvmy_mondo_relaxed.owl ICD10:E83.1|UMLS:CN227206|Orphanet:309842 owl:Class MONDO:0023122 biolink:NamedThing familial prostate carcinoma Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma. tmpak2llvmy_mondo_relaxed.owl prostate cancer, familial|familial prostate cancer|prostate cancer, hereditary|hereditary prostate carcinoma|hereditary prostate cancer GTR:AN0101368|Orphanet:1331|GARD:0004520|SCTID:715412008|UMLS:CN036094|NCIT:C103817|OMIM:176807|GTR:AN0101369|UMLS:C2931456 Editor note: check OMIM https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer owl:Class GO:0061307 biolink:NamedThing cardiac neural crest cell differentiation involved in heart development The process in which a relatively unspecialized cell acquires specialized features of a cardiac neural crest cell that will migrate to the heart and contribute to its development. Cardiac neural crest cells are specialized cells that migrate toward the heart from the third, fourth and sixth pharyngeal arches. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014033 biolink:NamedThing neural crest cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006916 biolink:NamedThing non-keratinized epithelium of tongue A non-keratinized stratified squamous epithelium that is part of a tongue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010304 biolink:NamedThing non-keratinized stratified squamous epithelium Stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesizes but does not accumulate keratin. Examples: epithelium of vagina, epithelium of wall of esophagus. tmpak2llvmy_mondo_relaxed.owl stratified squamous nonkeratinizing epithelium|stratified squamous non-keratinized epithelium|nonkeratinizing stratified squamous epithelium|epithelium stratificatum squamosum noncornificatum owl:Class MONDO:0001658 biolink:NamedThing nontoxic goiter Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. tmpak2llvmy_mondo_relaxed.owl Nodule-thyroid, non tox|nontoxic goiter|goiter, non-toxic|non-toxic goiter|euthyroid goiter|non-toxic goitre|goitre, non-toxic|non-toxic simple goitre UMLS:C0221777|ICD10:E04.9|ICD10:E04.0|DOID:13195|NCIT:C35271 owl:Class MONDO:0005397 biolink:NamedThing goiter Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. tmpak2llvmy_mondo_relaxed.owl goiter|goiter (disease)|Thyromegaly|goitre goiter (disease) DOID:12176|EFO:0004283|SCTID:3716002|HP:0000853|NCIT:C26785|ICD9:240.9|ICD10:E04.9|MESH:D006042 owl:Class MONDO:0007259 biolink:NamedThing craniofaciofrontodigital syndrome Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). tmpak2llvmy_mondo_relaxed.owl Cantu craniofaciofrontodigital syndrome|craniofaciofrontodigital syndrome ICD10:Q87.0|MESH:C567298|OMIM:114620|SCTID:763320005|UMLS:C2676032|Orphanet:363705 owl:Class MONDO:0100237 biolink:NamedThing inherited cutis laxa An instance of cutis laxa that is inherited. tmpak2llvmy_mondo_relaxed.owl hereditary cutis laxa OMIMPS:123700 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001698 biolink:NamedThing tinea profunda A dermatophytosis that involves the deep dermal layers. tmpak2llvmy_mondo_relaxed.owl deep seated dermatophytosis|granuloma trichophyticum|Majocchi's granuloma DOID:13368|UMLS:C1279621|SCTID:214600002 owl:Class MONDO:0004678 biolink:NamedThing dermatophytosis A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. tmpak2llvmy_mondo_relaxed.owl ringworm|dermatomycosis|skin disease, fungal|fungal skin diseases|fungal skin disease|skin diseases, fungal ICD10:B35.9|ICD9:110.9|SCTID:47382004|ICD10:B35|NCIT:C26745|DOID:8913|ICD9:110.8|UMLS:C0011636|ICD9:110 Editor note: check cutaneous vs superficial owl:Class MONDO:0007727 biolink:NamedThing autosomal dominant familial periodic fever Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis. tmpak2llvmy_mondo_relaxed.owl TNF receptor-associated periodic syndrome|tumor necrosis factor receptor 1-associated periodic syndrome|periodic FEVER, familial, autosomal dominant|tumor necrosis factor receptor 1 associated periodic syndrome|familial Hibernian fever|TNF receptor 1-associated periodic syndrome|TRAPS|TRAPS syndrome|TNF receptor-associated periodic fever syndrome|tumor necrosis factor receptor-associated periodic syndrome|Hibernian fever, familial|FPF|FHF OMIM:142680|MESH:C536657|ICD10:E85.0|GARD:0008457|NCIT:C119051|DOID:0090018|SCTID:403833009|Orphanet:32960 owl:Class MONDO:0017953 biolink:NamedThing hereditary periodic fever syndrome An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary periodic fever syndrome UMLS:CN204099|ICD10:E85.0|Orphanet:324924|MESH:D056660 owl:Class UBERON:0006214 biolink:NamedThing carpus pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a carpal bone. tmpak2llvmy_mondo_relaxed.owl carpal pre-cartilage condensation owl:Class UBERON:0015049 biolink:NamedThing carpus endochondral element A carpus bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl carpus skeletal element|carpus element owl:Class MONDO:0008912 biolink:NamedThing cardiac septal defects with coarctation of the aorta tmpak2llvmy_mondo_relaxed.owl cardiac septal defects with coarctation of the aorta UMLS:C1859331|MESH:C565883|OMIM:212090 owl:Class MONDO:0019600 biolink:NamedThing xeroderma pigmentosum Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). tmpak2llvmy_mondo_relaxed.owl xeroderma of Kaposi|xeroderma pigmentosa|XP|angioma pigmentosum atrophicum|melanosis lenticularis progressiva|xeroderma pigmentosum syndrome|Kaposi dermatosis|atrophoderma pigmentosum|pigmented epitheliomatosis|Kaposi disease MESH:D014983|NCIT:C3452|GARD:0007910|UMLS:C0043346|MedDRA:10048220|DOID:0050427|ICD10:Q82.1|SCTID:44600005|Orphanet:910 https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum owl:Class MONDO:0015333 biolink:NamedThing progeroid syndrome A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. tmpak2llvmy_mondo_relaxed.owl UMLS:CN199363|Orphanet:139033 owl:Class MONDO:0010295 biolink:NamedThing anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. tmpak2llvmy_mondo_relaxed.owl OLEDAID|ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema|ol-EDA-ID SCTID:720986005|OMIM:300301|MESH:C564538|Orphanet:69088|ICD10:Q78.2 owl:Class MONDO:0019313 biolink:NamedThing lymphatic malformation Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation. tmpak2llvmy_mondo_relaxed.owl hereditary lymphedema|lymphedema, hereditary GARD:0007220|ICD9:757.0|ICD10:Q82.0|SCTID:254199006|DOID:0050580|OMIMPS:153100 owl:Class MONDO:0018964 biolink:NamedThing homocystinuria without methylmalonic aciduria Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). tmpak2llvmy_mondo_relaxed.owl functional methionine synthase deficiency|homocystinuria without methylmalonic aciduria|methylcobalamin deficiency ICD10:E72.1|UMLS:C4303479|Orphanet:622|SCTID:721225009 owl:Class MONDO:0020109 biolink:NamedThing constitutional megaloblastic anemia due to vitamin B12 metabolism disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:D51.9|ICD10:D51.3|ICD10:D51.2|Orphanet:98396|UMLS:CN227785|ICD10:D51.8|ICD10:D51.1|ICD10:D51.0 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: HP_0001889 Megaloblastic anemia' HP_0001889 owl:Class UBERON:0005906 biolink:NamedThing serous sac Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000062 biolink:NamedThing organ Anatomical structure that performs a specific function or group of functions [WP]. tmpak2llvmy_mondo_relaxed.owl anatomical unit|body organ|element owl:Class MONDO:0008759 biolink:NamedThing oxoglutaricaciduria Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. tmpak2llvmy_mondo_relaxed.owl ALPHA-ketoglutarate dehydrogenase deficiency|Alpha-ketoglutarate dehydrogenase deficiency|Oxoglutaric aciduria|Alpha KGD deficiency|2 alpha ketoglutarate dehydrogenase deficiency|2-ketoglutarate dehydrogenase deficiency|Alpha-Kgd deficiency MESH:C536582|Orphanet:31|SCTID:733630004|GARD:0000617|OMIM:203740|ICD10:E88.8|UMLS:C2752074 owl:Class MONDO:0019058 biolink:NamedThing neurometabolic disease tmpak2llvmy_mondo_relaxed.owl Orphanet:68385|UMLS:CN205539 owl:Class MONDO:0015512 biolink:NamedThing genetic hypertension An instance of hypertension that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic hypertension|genetic hypertensive disorder UMLS:C0598428|Orphanet:156629 owl:Class MONDO:0005044 biolink:NamedThing hypertensive disorder Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. tmpak2llvmy_mondo_relaxed.owl high blood pressure|hypertensive disease|HTN|hyperpiesia|blood pressure, high|hypertension|blood pressure, increased|pressure, high blood|vascular hypertensive disorder|increased blood pressure EFO:0000537|ICD9:401-405.99|SCTID:38341003|DOID:10763|ICD10:I15|UMLS:C0020538|NCIT:C3117|ICD9:997.91|MESH:D006973|ICD10:I10-I15|HP:0000822|ICD10:I10 owl:Class MONDO:0002533 biolink:NamedThing papillary adenoma An adenoma characterized by the presence of papillary epithelial patterns. tmpak2llvmy_mondo_relaxed.owl papillary adenoma NOS (morphologic abnormality)|glandular papilloma|adenoma, papillary, benign|papillary adenoma DOID:3172|NCIT:C79951|UMLS:C0205650 owl:Class MONDO:0004972 biolink:NamedThing adenoma A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl adenomas|acinar cell adenoma (morphologic abnormality)|adenoma, benign|adenoma|acinic cell adenoma|acinar cell adenoma ICDO:8140/0|NCIT:C2855|DOID:657|SCTID:443416007|MESH:D000236|EFO:0000232|UMLS:C0001430 Editor note: check status re benign owl:Class MONDO:0002519 biolink:NamedThing anus disease A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. tmpak2llvmy_mondo_relaxed.owl Ulcer of anus|anal fissure and fistula|disorder of anus|anus disease|nontraumatic tear of anus|anal fissure|anal disorder|anus disease or disorder|disease or disorder of anus|anal ulcer|anal disease|solitary anal ulcer|fissure in ano|disorder of anal region|disease of anus UMLS:C0016167|NCIT:C26695|DOID:3128|UMLS:C0003462|MESH:D001004|SCTID:32110003|UMLS:C1301262 owl:Class MONDO:0001593 biolink:NamedThing rectal disease A disease that involves the rectum. tmpak2llvmy_mondo_relaxed.owl rectum disease or disorder|disease of rectum|rectum disease|disorder of rectum|rectal disorder|disease or disorder of rectum ICD9:569.49|DOID:1285|MESH:D012002|UMLS:C0034882|SCTID:5964004 owl:Class NCIT:C12736 biolink:NamedThing Intestine tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C13018 biolink:NamedThing Organ tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016321 biolink:NamedThing female meiosis chromosome segregation The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045132 biolink:NamedThing meiotic chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020327 biolink:NamedThing classic Hodgkin lymphoma, nodular sclerosis type tmpak2llvmy_mondo_relaxed.owl ICD10:C81.1|Orphanet:98843 owl:Class MONDO:0009348 biolink:NamedThing classic Hodgkin lymphoma Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells. tmpak2llvmy_mondo_relaxed.owl classical Hodgkin lymphoma|lymphoma, Hodgkin, classic|Hodgkin disease|Chl|classic Hodgkin disease|classical Hodgkin's lymphoma OMIM:236000|ICD10:C81.7|ICD10:C81.3|ICD10:C81.0|NCIT:C7164|ICD10:C81.9|UMLS:CN204952|Orphanet:391|ICD10:C81.2|ICD10:C81.1|ICD10:C81.4|ONCOTREE:CHL owl:Class UBERON:0003585 biolink:NamedThing dermis connective tissue A portion of connective tissue that is part of a dermis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl dermis textus connectivus|portion of connective tissue of dermis|connective tissue of dermis|dermis portion of connective tissue|textus connectivus of dermis owl:Class UBERON:0002384 biolink:NamedThing connective tissue Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. tmpak2llvmy_mondo_relaxed.owl portion of connective tissue|Bindegewebe|textus connectivus owl:Class MONDO:0007829 biolink:NamedThing cholestasis, intrahepatic, of pregnancy, 1 tmpak2llvmy_mondo_relaxed.owl cholestasis, intrahepatic, of pregnancy, 1|cholestasis, pregnancy-related, 1|cholestasis, intrahepatic, of pregnancy, type 1|ICP1 UMLS:C3549845|OMIM:147480|DOID:0070228 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class MONDO:0017290 biolink:NamedThing familial intrahepatic cholestasis An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary intrahepatic cholestasis UMLS:CN239338|Orphanet:284385|ICD9:576.8|UMLS:CN227107|ICD10:K83.1|SCTID:74162007 owl:Class HGNC:11599 biolink:NamedThing TBX21 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003542 biolink:NamedThing right lung respiratory bronchiole A respiratory bronchiole that is part of a right lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right lung bronchiolus respiratorius|bronchiolus respiratorius of right lung|respiratory bronchiole of right lung owl:Class UBERON:0003538 biolink:NamedThing right lung bronchiole A bronchiole that is part of a right lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchiole of right lung|lobular bronchiole of right lung|right lung lobular bronchiole owl:Class MONDO:0017284 biolink:NamedThing Xp22.13p22.2 duplication syndrome tmpak2llvmy_mondo_relaxed.owl Duplication Xp22|dup(X)(p22.13p22.2)|dup(X)(p22) UMLS:CN202846|ICD10:Q99.8|Orphanet:284180 owl:Class MONDO:0043005 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary multiple congenital anomalies/dysmorphic syndrome Orphanet:183533 owl:Class MONDO:0019098 biolink:NamedThing autoimmune thrombocytopenia An autoimmune form of thrombocytopenia. tmpak2llvmy_mondo_relaxed.owl UMLS:C0242584|SCTID:128091003|MedDRA:10050245|Orphanet:71203|ICD10:D69.3 owl:Class MONDO:0002049 biolink:NamedThing thrombocytopenia A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. tmpak2llvmy_mondo_relaxed.owl platelet count decreased|thrombocytopenic disorder UMLS:CN130080|SCTID:302215000|DOID:1588|UMLS:C0040034|NCIT:C3408|ICD9:287.5|MESH:D013921|ICD10:D69.6 owl:Class UBERON:0000398 biolink:NamedThing cartilage tissue of sternum Any portion of cartilage tissue that is part of the sternum tmpak2llvmy_mondo_relaxed.owl cartilage of sternum owl:Class UBERON:0003837 biolink:NamedThing thoracic segment connective tissue A portion of connective tissue that is part of a thorax [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl textus connectivus of thorax|connective tissue of thorax|upper body connective tissue|thorax textus connectivus|portion of connective tissue of thorax|thorax connective tissue|thorax portion of connective tissue owl:Class UBERON:3000981 biolink:NamedThing limb external integument structure Dermal, epidermal, glandular and pigment structures of the limb integument. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:3000961 biolink:NamedThing external integument structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007953 biolink:NamedThing Binder syndrome A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. tmpak2llvmy_mondo_relaxed.owl maxillonasal dysplasia|binder syndrome|Binder syndrome|MAXILLONASAL dysplasia, BINDER type|Maxillonasal dysostosis|binder type maxillonasal dysplasia OMIM:155050|MESH:C536036|ICD10:Q75.8|DOID:14683|UMLS:C0220692|SCTID:715985008|Orphanet:1248|GARD:0006992 owl:Class MONDO:0019589 biolink:NamedThing syndromic genetic deafness tmpak2llvmy_mondo_relaxed.owl syndromic genetic deafness|syndromic hearing loss Orphanet:90642|SCTID:232333009|UMLS:CN206426|ICD10:H90.3 owl:Class MONDO:0014421 biolink:NamedThing glucocorticoid resistance tmpak2llvmy_mondo_relaxed.owl glucocorticoid receptor deficiency|cortisol resistance from glucocorticoid receptor defect|Gcr deficiency|Grl deficiency|glucocorticoid resistance, generalized|Gccr deficiency|GCCR ICD10:E25.8|OMIM:615962|MESH:C564221|GARD:0002499|UMLS:C1841972|Orphanet:786 https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance owl:Class MONDO:0002525 biolink:NamedThing inherited lipid metabolism disorder An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. tmpak2llvmy_mondo_relaxed.owl lipid metabolism disorder|disorder of lipid metabolism|fatty acid metabolism disorder|dyslipidemia NCIT:C97092|DOID:3146|Orphanet:309005|ICD9:272.8|UMLS:C0154251|ICD9:272.9|MedDRA:10061227|SCTID:267431006 owl:Class MONDO:0000645 biolink:NamedThing fallopian tube benign neoplasm A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma. tmpak2llvmy_mondo_relaxed.owl fallopian tube neoplasm, benign|benign fallopian tube tumor|benign tumor of fallopian tubes|benign tumor of fallopian tube|benign fallopian tube neoplasm|fallopian tube tumor, benign|benign neoplasm of fallopian tube|benign tumor of the fallopian tube|fallopian tube benign neoplasm|benign neoplasm of the fallopian tube DOID:0060111|UMLS:C0346190|Orphanet:180237|NCIT:C4517|ICD10:D28.2|MedDRA:10053865|SCTID:92100009 owl:Class MONDO:0021092 biolink:NamedThing fallopian tube neoplasm A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma. tmpak2llvmy_mondo_relaxed.owl tumor of fallopian tube|fallopian tube neoplasm|fallopian tube neoplasm (disease)|fallopian tube tumor|tumor of the fallopian tube|neoplasm of fallopian tube|neoplasm of the fallopian tube NCIT:C3032|SCTID:126916003|ICD9:239.5|UMLS:C0015558 owl:Class MONDO:0600001 biolink:NamedThing glutaminase deficiency Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene. tmpak2llvmy_mondo_relaxed.owl glutaminase deficiency http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0017352 biolink:NamedThing disorder of glutamine metabolism tmpak2llvmy_mondo_relaxed.owl ICD9:270.7|SCTID:190724004|UMLS:C0342669|Orphanet:289841|ICD10:E72.8 owl:Class MONDO:0025485 biolink:NamedThing feline acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv). tmpak2llvmy_mondo_relaxed.owl FAIDS|Feline acquired immuno deficiency syndrome|Feline immunodeficiency virus cat disease|AIDS, Feline|Feline immunodeficiency virus caused cat disease|Feline acquired immuno-deficiency syndrome|Feline acquired immune deficiency syndrome|Feline AIDS MESH:D016181|UMLS:C0079335 Editor note: consider separate class for infectious disease owl:Class MONDO:0024912 biolink:NamedThing cat disease Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used. tmpak2llvmy_mondo_relaxed.owl diseases, Cat|Feline disease|cat disease|diseases, Feline|disease, Cat|disease, Feline|Feline diseases UMLS:C0007350|MESH:D002371 owl:Class MONDO:0027029 biolink:NamedThing HHV-6 encephalitis HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors. tmpak2llvmy_mondo_relaxed.owl Human Herpesvirus 6 encephalitis|Variant A or HHV-6A|Variant B or HHV-6B GARD:0009667 owl:Class MONDO:0019956 biolink:NamedThing encephalitis An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. tmpak2llvmy_mondo_relaxed.owl brain inflammation Orphanet:97275|ICD9:323.0|ICD9:323.8|MESH:D004660|NCIT:C26760|UMLS:C0014038|ICD9:323.9|ICD10:A85|DOID:9588|MedDRA:10014581|SCTID:45170000 Editor note: consider merging with brain inflammation owl:Class MONDO:0003876 biolink:NamedThing eyelid carcinoma A carcinoma that arises from epithelial cells of the eyelid. tmpak2llvmy_mondo_relaxed.owl carcinoma of the eyelid|carcinoma of eyelid|eyelid carcinoma DOID:6425|UMLS:C0920196|NCIT:C6078 owl:Class MONDO:0002466 biolink:NamedThing eye carcinoma A carcinoma that arises from epithelial cells of the eye tmpak2llvmy_mondo_relaxed.owl carcinoma of eyeball of camera-type eye|eyeball of camera-type eye carcinoma|eye carcinoma|carcinoma of eye|carcinoma of the eye|ocular carcinoma UMLS:C0848866|DOID:295|NCIT:C6079 owl:Class HGNC:8847 biolink:NamedThing PER3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:5206 biolink:NamedThing Cryptococcus tmpak2llvmy_mondo_relaxed.owl Filobasidiella|Cryptococcus GC_ID:1 NCBITaxon:107441|NCBITaxon:192653|NCBITaxon:5415 ncbi_taxonomy owl:Class NCBITaxon:1884633 biolink:NamedThing Cryptococcaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005923 biolink:NamedThing Pneumocystis infectious disease Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. tmpak2llvmy_mondo_relaxed.owl Pneumocystis infection|infections, Pneumocystis EFO:0007447|MESH:D016720|UMLS:C0851886 owl:Class MONDO:0005550 biolink:NamedThing infectious disease A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. tmpak2llvmy_mondo_relaxed.owl disease by infectious agent|transmissible disease|infectious|communicable disease|clinical infection|infectious diseases and manifestations|infectious disorder|infection|infectious disease ICD9:136.9|ICD10:A00.B99|DOID:0050117|SCTID:40733004|NCIT:C26726|MESH:D003141|ICD9:136.8|EFO:0005741|ICD9:079.0|IDO:0000436 Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. owl:Class GO:0006091 biolink:NamedThing generation of precursor metabolites and energy The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. tmpak2llvmy_mondo_relaxed.owl intermediary metabolism|energy pathways|metabolic energy generation owl:Class GO:0044237 biolink:NamedThing cellular metabolic process The chemical reactions and pathways by which individual cells transform chemical substances. tmpak2llvmy_mondo_relaxed.owl intermediary metabolism|cellular metabolism owl:Class MONDO:0009387 biolink:NamedThing familial lipoprotein lipase deficiency Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. tmpak2llvmy_mondo_relaxed.owl endogenous hypertriglyceridaemia|lipd deficiency|hyperlipoproteinemia type I|Fredrickson type I hyperlipoproteinemia|mixed hyperglyceridemia|familial fat-induced hypertriglyceridemia|lipase D deficiency|hyperchylomicronemia|Fredrickson type I lipaemia|familial hyperchylomicronemia|hyperchylomicronemia, familial|hyperlipemia, idiopathic, Burger-Grutz type|hypercholesterinaemic xanthomatosis|lipoprotein lipase deficiency|familial lipoprotein lipase deficiency with type I phenotype|lipoprotein lipase deficiency, familial|familial lipoprotein lipase deficiency (disorder) [ambiguous]|type I hyperlipoproteinemia|familial LPL deficiency|hyperlipemia, essential familial|LPL deficiency|hyperlipoproteinemia, type 1|hyperlipoproteinemia, type 1A|familial hyperlipoproteinemia type I|hyperlipoproteinemia, type I|Burger-Grutz syndrome|familial chylomiconemia syndrome|chylomicronemia, familial NCIT:C84771|DOID:14118|SCTID:275598004|Orphanet:309015|MESH:D008072|OMIM:238600|ICD10:E78.3|ICD9:272.3|GARD:0012241 https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency owl:Class MONDO:0001336 biolink:NamedThing familial hyperlipidemia An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial hyperlipemia|hyperlipidaemia|hereditary hyperlipidemia (disease)|hyperlipemia|familial hyperlipoproteinemia ICD10:E78.5|DOID:1168 Editor note: consider merging owl:Class MONDO:0005292 biolink:NamedThing colitis Inflammation of the colon. tmpak2llvmy_mondo_relaxed.owl inflammation of colon|colitis (disease)|colon inflammation|colitis colitis (disease) SCTID:64226004|EFO:0003872|ICD9:558.9|DOID:0060180|MESH:D003092|HP:0002583|UMLS:C0009319|ICD10:K52.9|NCIT:C26723 owl:Class MONDO:0002269 biolink:NamedThing gastroenteritis An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. tmpak2llvmy_mondo_relaxed.owl inflammation of intestine|infectious colitis, enteritis and gastroenteritis|cholera morbus|intestine inflammation SCTID:25374005|ICD9:558.9|DOID:2326|UMLS:C0017160|EFO:1001463|NCIT:C34632|ICD10:K52.9|MESH:D005759 owl:Class MONDO:0010878 biolink:NamedThing hereditary spastic paraplegia 6 Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 6|familial spastic paraplegia, autosomal dominant, 3|autosomal dominant spastic paraplegia 6|autosomal dominant familial spastic paraplegia type 3|hereditary spastic paraplegia caused by mutation in NIPA1|hereditary spastic paraplegia type 6|familial spastic paraplegia autosomal dominant 3|NIPA1 hereditary spastic paraplegia|spastic paraplegia 6, autosomal dominant|autosomal dominant spastic paraplegia type 6|SPG6|FSP3 SCTID:732949006|GARD:0004928|Orphanet:100988|UMLS:C1838192|DOID:0110811|UMLS:C4518537|OMIM:600363|MESH:C536866|ICD10:G11.4 owl:Class MONDO:0017914 biolink:NamedThing pure or complex autosomal dominant spastic paraplegia tmpak2llvmy_mondo_relaxed.owl Pure or complicated autosomal dominant spastic paraplegia Orphanet:320342|ICD10:G11.4 owl:Class MONDO:0002068 biolink:NamedThing female breast lower-inner quadrant cancer tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of lower-inner quadrant of female breast ICD9:174.3|ICD10:C50.31|ICD10:C50.3|DOID:1649|UMLS:C0153551|SCTID:188153009 owl:Class MONDO:0004379 biolink:NamedThing female breast carcinoma A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females. tmpak2llvmy_mondo_relaxed.owl female breast carcinoma|carcinoma of the female breast|carcinoma of female breast|female breast cancer|mammary carcinoma of the female breast|mammary carcinoma of female breast|breast carcinoma, female ICD9:174.9|DOID:7843|NCIT:C2918|UMLS:C0007104|SCTID:372064008|SCTID:447782002|DOID:0050671|ICD9:174.8 owl:Class MONDO:0009218 biolink:NamedThing Farber lipogranulomatosis Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. tmpak2llvmy_mondo_relaxed.owl AC deficiency|acid ceramidase deficiency|N-LAURYLSPHINGOSINE deacylase deficiency|ceramidase deficiency|N-Laurylsphingosine deacylase deficiency|Farber disease|Farber lipogranulomatosis|FRBRL|Farber's disease MESH:D055577|UMLS:CN204335|UMLS:C0268255|SCTID:79935000|Orphanet:333|NCIT:C84710|GARD:0006426|ICD9:272.8|OMIM:228000|DOID:0050464|ICD10:E75.2 owl:Class MONDO:0020244 biolink:NamedThing unclassified primitive or secondary maculopathy tmpak2llvmy_mondo_relaxed.owl 2022-01-01 Orphanet:98666 Reason: out of scope. Term to consider: MONDO_0020242. MONDO:0020242 owl:Class MONDO:0004378 biolink:NamedThing pediatric cerebral ependymoblastoma An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children. tmpak2llvmy_mondo_relaxed.owl childhood cerebral ependymoblastoma|childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered UMLS:C1332962|DOID:7841|NCIT:C6957 owl:Class MONDO:0016715 biolink:NamedThing ependymoblastoma Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. tmpak2llvmy_mondo_relaxed.owl neuroectodermal tumors primitive|ETANTR|ETMR|embryonal tumor with abundant neuropil and true rosettes|embryonal tumor with Multilayered Rosettes|embryonal tumor with abundant neuropil and true Rosettes|ependymoblastoma|embryonal tumor with Multilayered Rosettes, C19MC-altered|ETMR, C19MC-altered|embryonal tumor with Multilayered Rosettes with C19MC amplification SCTID:715901002|GARD:0006352|NCIT:C4915|ICD10:C71.9|UMLS:C0700367|DOID:4794|MedDRA:10014966|Orphanet:251880|ONCOTREE:ETANTR owl:Class MONDO:0009189 biolink:NamedThing multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. tmpak2llvmy_mondo_relaxed.owl multiple epiphyseal dysplasia with Bilayered patellae|multiple epiphyseal dysplasia with clubfoot|Polyepiphyseal dysplasia type 4|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia, autosomal recessive|rMED|epiphyseal dysplasia multiple 4|SLC26A2 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, 4|MED4|multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2|multiple epiphyseal dysplasia with double-layered patella|multiple epiphyseal dysplasia 4|epiphyseal dysplasia, multiple, type 4|EDM4 UMLS:C1847593|MESH:C535504|OMIM:226900|DOID:0070300|GARD:0009793|ICD10:Q77.3|Orphanet:93307|SCTID:715672007 owl:Class MONDO:0019688 biolink:NamedThing sulfation-related bone disorder tmpak2llvmy_mondo_relaxed.owl UMLS:CN227674|Orphanet:93423 owl:Class ECTO:0001566 biolink:NamedThing exposure to cadmium An exposure to cadmium molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to cadmium molecular entity owl:Class ECTO:0000481 biolink:NamedThing exposure to transition element An exposure to transition element molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to transition element molecular entity owl:Class MONDO:0001887 biolink:NamedThing Allen-Masters syndrome A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix. tmpak2llvmy_mondo_relaxed.owl Masters-Allen syndrome|Broad ligament laceration syndrome SCTID:69186005|ICD9:620.6|UMLS:C0152079|DOID:14133 owl:Class MONDO:0045043 biolink:NamedThing disease of uterine broad ligament A disease or disorder that involves the broad ligament of uterus. tmpak2llvmy_mondo_relaxed.owl disease or disorder of broad ligament of uterus|broad ligament of uterus disease or disorder|disorder of broad ligament|disease of broad ligament of uterus|broad ligament of uterus disease|disorder of broad ligament of uterus SCTID:237062006|UMLS:C0404479 owl:Class CHEBI:29101 biolink:NamedThing sodium(1+) A monoatomic monocation obtained from sodium. tmpak2llvmy_mondo_relaxed.owl Na(+)|sodium cation|sodium(1+) ion|sodium(I) cation|Na+|SODIUM ION|sodium(1+) owl:Class CHEBI:60242 biolink:NamedThing monovalent inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. tmpak2llvmy_mondo_relaxed.owl a monovalent cation owl:Class HP:0000011 biolink:NamedThing Neurogenic bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. tmpak2llvmy_mondo_relaxed.owl Lack of bladder control due to nervous system injury UMLS:C0005697|MSH:D001750|SNOMEDCT_US:398064005|SNOMEDCT_US:397732007 Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. human_phenotype owl:Class HP:0000009 biolink:NamedThing Functional abnormality of the bladder Dysfunction of the urinary bladder. tmpak2llvmy_mondo_relaxed.owl Poor bladder function UMLS:C3806583 HP:0008731|HP:0004424 human_phenotype owl:Class UBERON:0002224 biolink:NamedThing thoracic cavity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. tmpak2llvmy_mondo_relaxed.owl thoracic lumen|chest cavity|pectoral cavity|cavity of chest|cavitas thoracis|space of thoracic compartment|cavity of thorax owl:Class UBERON:0000464 biolink:NamedThing anatomical space Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. tmpak2llvmy_mondo_relaxed.owl anatomical spaces|space|lumen space|lumen owl:Class MONDO:0020537 biolink:NamedThing occupational allergic alveolitis Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise tmpak2llvmy_mondo_relaxed.owl Orphanet:99909 owl:Class MONDO:0017853 biolink:NamedThing hypersensitivity pneumonitis Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. tmpak2llvmy_mondo_relaxed.owl extrinsic allergic alveolitis|exogen allergic alveolitis|alveolitis, extrinsic allergic|allergic pneumonitis|HP|allergic interstitial pneumonitis|extrinsic allergic pneumonia hypersensitivity pneumonitis|hypersensitivity pneumonitis ICD10:J67.8|ICD9:495.8|SCTID:37471005|ICD10:J67.6|ICD10:J67.4|ICD10:J67.5|Orphanet:31740|GARD:0000012|ICD10:J67.1|ICD10:J67.9|ICD10:J67.2|MedDRA:10001890|ICD9:495.9|ICD10:J67.3|ICD10:J67.7|ICD10:J67.0 owl:Class UBERON:4300227 biolink:NamedThing hindlimb bud mesenchyme Mesenchyme that is part of a hindlimb bud. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010328 biolink:NamedThing limb bud mesenchyme Mesenchyme that is part of a limb bud. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019376 biolink:NamedThing West-Nile encephalitis An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis. tmpak2llvmy_mondo_relaxed.owl West-Nile fever|West Nile fever with encephalitis|West Nile virus infectious encephalitis|West Nile virus caused infectious encephalitis|West Nile encephalitis|West Nile fever encephalitis ICD9:066.41|EFO:0007545|GARD:0009959|Orphanet:83476|DOID:2365|ICD10:A92.3|ICD10:A92.31|SCTID:392662004 owl:Class HsapDv:0000125 biolink:NamedThing 31-year-old human stage Adult stage that refers to an adult who is over 31 and under 32. tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000000 biolink:NamedThing human life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. tmpak2llvmy_mondo_relaxed.owl stage|developmental stage owl:Class MONDO:0007328 biolink:NamedThing choroidal osteoma, bilateral tmpak2llvmy_mondo_relaxed.owl choroidal osteoma, bilateral MESH:C566124|UMLS:C1861558|OMIM:118865 owl:Class GO:0003022 biolink:NamedThing detection of pH by chemoreceptor signaling The process in which information about the levels of hydrogen ions are received and are converted to a molecular signal by chemoreceptors. tmpak2llvmy_mondo_relaxed.owl detection of pH by chemoreceptor signalling owl:Class GO:0003030 biolink:NamedThing detection of hydrogen ion The series of events in which a hydrogen ion stimulus is received by a cell and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001773 biolink:NamedThing myeloid dendritic cell activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002274 biolink:NamedThing myeloid leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpak2llvmy_mondo_relaxed.owl myeloid leucocyte activation owl:Class HP:0001651 biolink:NamedThing Dextrocardia The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. tmpak2llvmy_mondo_relaxed.owl Thoracic situs inversus|Heart tip and four chambers point towards right side of body UMLS:C0011813|Fyler:0110|MSH:D003914|SNOMEDCT_US:27637000|ICD-10:Q24.0|EPCC:02.01.02|Fyler:110 human_phenotype owl:Class HP:0004307 biolink:NamedThing Abnormal anatomic location of the heart Developmental defect characterized by an anomalous anatomic location of the heart. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025359 peter 2008-02-20T01:23:00Z human_phenotype owl:Class FOODON:03414374 biolink:NamedThing bovine The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03414381 biolink:NamedThing bovid A bovid (family *Bovidae*) is any of almost 140 species of cloven-hoofed, ruminant mammal which has males with characteristic unbranching horns covered in a permanent sheath of keratin. The family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0005445 biolink:NamedThing Enlarged posterior fossa Abnormal increased size of the posterior cranial fossa. tmpak2llvmy_mondo_relaxed.owl Widened posterior fossa UMLS:C1855889 human_phenotype owl:Class HP:0000932 biolink:NamedThing Abnormal posterior cranial fossa morphology An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. tmpak2llvmy_mondo_relaxed.owl Posterior fossa anomaly|Abnormality of the posterior fossa|Abnormality of the posterior cranial fossa UMLS:C3280768 The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. HP:0007306 human_phenotype owl:Class MONDO:0008445 biolink:NamedThing delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. tmpak2llvmy_mondo_relaxed.owl speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE|Mehes syndrome|delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases Orphanet:3038|OMIM:182875|ICD10:Q87.0|GARD:0003449|UMLS:C2931119|SCTID:716199000 owl:Class MONDO:0000508 biolink:NamedThing syndromic intellectual disability A intellectual disability that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic intellectual disability|syndrome associated with intellectual disability UMLS:CN225415|DOID:0050888 owl:Class MONDO:0025100 biolink:NamedThing mastitis, bovine Inflammation of the udder in cows. tmpak2llvmy_mondo_relaxed.owl bovine Mastitides|bovine mastitis|Mastitides, bovine MESH:D008414|EFO:1001765|UMLS:C0024895 owl:Class MONDO:0024913 biolink:NamedThing cattle disease Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. tmpak2llvmy_mondo_relaxed.owl bovine disease|disease, bovine|diseases, cattle|diseases, bovine|disease, cattle|bovine diseases|cattle disease UMLS:C0007453|MESH:D002418 owl:Class UBERON:0003690 biolink:NamedThing fused sacrum A collection of sacral vertebrae in the sacral region that are fused and part of the bony pelvis. tmpak2llvmy_mondo_relaxed.owl sacrum [sacral vertebrae I - V]|os sacrum|os sacrum [vertebrae sacrales I - V]|sacral bone|sacrum [sacral vertebrae I-V]|sacrum owl:Class UBERON:0006075 biolink:NamedThing sacral region of vertebral column Subdivision of vertebral column that corresponds to the sacral subdivision of the body, containing the sacral vertebrae or sacrum. tmpak2llvmy_mondo_relaxed.owl sacrum|sacral skeleton|axial skeleton sacral region|sacral vertebrae series owl:Class MONDO:0017336 biolink:NamedThing fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency tmpak2llvmy_mondo_relaxed.owl fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency|fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency|fatal infantile HCM due to mitochondrial complex I deficiency Orphanet:289527|ICD10:I42.2 owl:Class MONDO:0017718 biolink:NamedThing mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:309136|UMLS:CN227185 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class NCBITaxon:32066 biolink:NamedThing Fusobacteria tmpak2llvmy_mondo_relaxed.owl Fusobacteriota|Fusobacteraeota|fusobacteria PMID:26654112|GC_ID:11|PMID:24969840|PMID:29458499 ncbi_taxonomy owl:Class NCBITaxon:2 biolink:NamedThing Bacteria tmpak2llvmy_mondo_relaxed.owl Prokaryotae|Prokaryota|Monera|bacteria|eubacteria|Procaryotae|prokaryote|prokaryotes|not Bacteria Haeckel 1894 PMID:8590690|PMID:10425796|PMID:11211268|PMID:9336922|PMID:11411719|PMID:10490293|PMID:11542017|PMID:10843050|PMID:11321113|PMID:10425797|PMID:9103655|PMID:7520741|GC_ID:11|PMID:12054223|PMID:11540071|PMID:2112744|PMID:10939677|PMID:8186100|PMID:10939673|PMID:270744|PMID:11760965|PMID:10425795|PMID:11321083|PMID:8123559|PMID:10939651|PMID:11542087 ncbi_taxonomy owl:Class CHEBI:22506 biolink:NamedThing aminoglycan tmpak2llvmy_mondo_relaxed.owl aminoglycans owl:Class CHEBI:65212 biolink:NamedThing polysaccharide derivative A carbohydrate derivative that is any derivative of a polysaccharide. tmpak2llvmy_mondo_relaxed.owl polysaccharide derivatives owl:Class HGNC:28018 biolink:NamedThing NIPAL4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0700070 biolink:NamedThing myopathy caused by varation in POMT1 Any myopathy in which the cause of the disease is a varation in the POMT1 gene. tmpak2llvmy_mondo_relaxed.owl myopathy caused by mutation in POMT1|POMT1-related myopathy|POMT1 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0016155 biolink:NamedThing qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan tmpak2llvmy_mondo_relaxed.owl secondary alpha-dystroglycanopathy|secondary dystroglycanopathy Orphanet:207113 owl:Class MONDO:0014004 biolink:NamedThing basal ganglia calcification, idiopathic, 4 tmpak2llvmy_mondo_relaxed.owl IBGC4|basal ganglia calcification, idiopathic, type 4|basal ganglia calcification, idiopathic, 4 OMIM:615007|UMLS:C3554321 owl:Class MONDO:0008947 biolink:NamedThing bilateral striopallidodentate calcinosis Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. tmpak2llvmy_mondo_relaxed.owl primary familial brain calcification|basal ganglia degeneration with calcification|cerebrovascular ferrocalcinosis|BSPDC|PFBC|basal ganglia calcification|idiopathic basal ganglia calcification|Fahr disease|basal ganglia calcification, idiopathic DOID:0060230|MESH:C536275|UMLS:C0393589|HP:0002135|ICD9:348.89|Orphanet:1980|MedDRA:10059626|SCTID:230311004|ICD9:333.0|UMLS:CN852731|OMIMPS:213600|SCTID:110997000|ICD10:G23.8 Encompasses a range of disorders with different etiology, see owl:Class MONDO:0008893 biolink:NamedThing C syndrome C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. tmpak2llvmy_mondo_relaxed.owl Opitz C trigonocephaly|C syndrome|OTCS|Opitz trigonocephaly syndrome|trigonocephaly C syndrome|Opitz trigonocephaly C syndrome|trigonocephaly syndrome Orphanet:1308|UMLS:C0796095|ICD10:Q87.8|MESH:C537418|GARD:0005978|DOID:0111581|SCTID:715409005|OMIM:211750 https://rarediseases.info.nih.gov/diseases/5978/c-syndrome owl:Class HGNC:16940 biolink:NamedThing DGAT2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004997 biolink:NamedThing chondroblastoma A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes. tmpak2llvmy_mondo_relaxed.owl chondroblastoma of bone|CHBL|chondroblastoma|chondroblastoma (disease) chondroblastoma (disease) UMLS:C0008441|GARD:0006047|DOID:2649|ICDO:9230/0|EFO:0000331|HP:0030432|ONCOTREE:CHBL|NCIT:C2945|MESH:D002804 owl:Class MONDO:0000631 biolink:NamedThing bone benign neoplasm A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl benign tumor of the bone|benign neoplasm of bone|benign bone neoplasm|benign neoplasm of the bone|benign osseous neoplasm|benign tumor of bone|benign bone tumor|benign osseous tumor|bone tissue benign neoplasm SCTID:92027006|NCIT:C4880|ICD9:213.9|DOID:0060094 owl:Class MONDO:0007969 biolink:NamedThing Melkersson-Rosenthal syndrome The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected. tmpak2llvmy_mondo_relaxed.owl Melkersson-Rosenthal syndrome|cheilitis Granulomatosa|Melkersson syndrome|Melkersson's syndrome|Mros|MRS|cheilitis granulomatosa of Mescher-Melkersson-Rosenthal MESH:D008556|NCIT:C84886|MedDRA:10027166|EFO:1001039|DOID:1761|OMIM:155900|ICD10:G51.2|GARD:0007010|UMLS:C0025235|Orphanet:2483 https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome owl:Class MONDO:0002098 biolink:NamedThing facial nerve disease A disease involving the facial nerve. tmpak2llvmy_mondo_relaxed.owl disorders of the seventh nerve|disorder of seventh cranial nerve|facial nerve disease|disease of facial nerve|facial nerve disease or disorder|disorder of facial nerve|disorders of the VIIth cranial nerve|disease or disorder of facial nerve|facial neuropathy|facial nerve disorder ICD10:G51|DOID:1756|ICD9:351.9|MESH:D005155|SCTID:422426003|NCIT:C27594|ICD10:G51.9|UMLS:C0015464|ICD9:351 owl:Class MONDO:0043071 biolink:NamedThing Zazam Sheriff Phillips syndrome tmpak2llvmy_mondo_relaxed.owl aniridia, lens luxation, mental retardation|aniridia, ectopia lentis, abnormal upper incisors and intellectual disability|aniridia, ectopia lentis, abnormal upper incisors and mental retardation|aniridia, lens luxation, intellectual disability GARD:0000339|UMLS:C2931300|MESH:C536723 owl:Class GO:0051048 biolink:NamedThing negative regulation of secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl inhibition of secretion|down-regulation of secretion|downregulation of secretion|down regulation of secretion owl:Class GO:0051051 biolink:NamedThing negative regulation of transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl down-regulation of transport|downregulation of transport|down regulation of transport|inhibition of transport owl:Class MONDO:0100091 biolink:NamedThing inherited pseudoxanthoma elasticum An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. tmpak2llvmy_mondo_relaxed.owl inherited Gronblad Strandberg syndrome|inherited PXE GARD:0009643 Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class MONDO:0019499 biolink:NamedThing Turner syndrome Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. tmpak2llvmy_mondo_relaxed.owl gonadal dysgenesis - Turner|45X syndrome|karyotype 45, X|gonadal dysgenesis Turner type|Bonnevie-Ullrich syndrome|Bonnevie-Ulrich syndrome|gonadal dysgenesis (45,X)|monosomy X syndrome|45,X gonadal dysgenesis|XO syndrome|genital dwarfism, Turner type|45,X/46,XX syndrome|monosomy X|Ullrich-Turner syndrome|Schereshevkii Turner syndrome|genital dwarfism|chromosome X monosomy X|45,X0 syndrome|45, X syndrome|45,X syndrome|gonadal dysgenesis|Turner Varny syndrome ICD10:Q96|GARD:0002459|GARD:0002458|ICD10:Q96.9|ICD10:Q96.1|MESH:D014424|ICD9:758.7|ICD10:Q96.3|MedDRA:10045181|SCTID:38804009|GARD:0007831|NCIT:C26900|GARD:0002540|UMLS:C0041408|Orphanet:881|ICD10:Q96.4|DOID:3491|ICD10:Q96.8|ICD10:Q96.2|ICD10:Q96.0 Editor note: consider splitting BU syndrome https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome|https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type|https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism owl:Class MONDO:0015620 biolink:NamedThing syndromic urogenital tract malformation A urogenital tract malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic urogenital tract malformation|syndrome associated with urogenital tract malformation UMLS:CN226715|Orphanet:165707 owl:Class MONDO:0005231 biolink:NamedThing hepatitis C virus infection A viral infection caused by the hepatitis C virus. tmpak2llvmy_mondo_relaxed.owl hepatitis C infection|viral hepatitis C|hepatitis Nona nonB|non-A, non-B Hepatitis|NANBH|Hepatitis C virus caused hepatitis|Hepatitis C virus hepatitis|chronic hepatitis C|hepatitis type C ICD9:070.7|NCIT:C3098|ICD9:070.54|MESH:D006526|SCTID:128302006|UMLS:C0019196|ICD10:B19.2|ICD9:070.41|EFO:0003047|ICD10:B19.20|DOID:1883 owl:Class HGNC:1033 biolink:NamedThing BDNF tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043539 biolink:NamedThing protein serine/threonine kinase activator activity Binds to and increases the activity of a protein serine/threonine kinase. tmpak2llvmy_mondo_relaxed.owl protein ser/thr kinase activator activity owl:Class GO:0030295 biolink:NamedThing protein kinase activator activity Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010280 biolink:NamedThing ptosis, hereditary congenital 2 tmpak2llvmy_mondo_relaxed.owl ptosis, hereditary congenital 2|ptosis, hereditary congenital type 2|Ptos2|ptosis, X-linked MESH:C564553|UMLS:C1846128|OMIM:300245 owl:Class MONDO:0008340 biolink:NamedThing congenital ptosis Congenital ptosis is characterized by superior eyelid drop present at birth. tmpak2llvmy_mondo_relaxed.owl ptosis, hereditary congenital 1|congenital eyelid ptosis|PTOS1|congenital ptosis (disease)|congenital ptosis congenital ptosis (disease) ICD9:743.61|SCTID:268163008|OMIM:178300|Orphanet:91411|ICD10:Q10.0|MedDRA:10015996|MESH:C566737|DOID:0060261|NCIT:C27049|HP:0007970 owl:Class MONDO:0019909 biolink:NamedThing ring chromosome 16 Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature. tmpak2llvmy_mondo_relaxed.owl chromosome 16 ring|Ring chromosome 16 syndrome|R16|Ring chromosome type 16|Ring 16 ICD10:Q93.2|Orphanet:96178|GARD:0010855|SCTID:763406004 https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16 owl:Class MONDO:0018186 biolink:NamedThing ring chromosome Aberrant chromosomes with no ends, i.e., circular. tmpak2llvmy_mondo_relaxed.owl supernumerary circular chromosome ICD10:Q93.2|Orphanet:363203 This term is from orphanet and refers specifically to autosomal chromosome. Consider MONDO:0700091, refering to both autosomal and gonosomal chromosomes. owl:Class GO:0045948 biolink:NamedThing positive regulation of translational initiation Any process that activates or increases the frequency, rate or extent of translational initiation. tmpak2llvmy_mondo_relaxed.owl upregulation of translational initiation|activation of translational initiation|up regulation of translational initiation|up-regulation of translational initiation|stimulation of translational initiation owl:Class GO:0006446 biolink:NamedThing regulation of translational initiation Any process that modulates the frequency, rate or extent of translational initiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008606 biolink:NamedThing Say-field-Coldwell syndrome Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. tmpak2llvmy_mondo_relaxed.owl triphalangeal thumbs and dislocation of patella|polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence|triphalangeal thumbs-dislocation of patella syndrome ICD10:Q74.8|GARD:0000242|UMLS:C1860805|OMIM:190650|MESH:C536619|Orphanet:3133 https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome owl:Class MONDO:0017434 biolink:NamedThing syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:294959|UMLS:CN203181 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0011399 biolink:NamedThing alpha thalassemia Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. tmpak2llvmy_mondo_relaxed.owl Alpha thalassaemia|alpha-thalassemia|alpha thalassemia|A-thalassemia MESH:D017085|NCIT:C34368|ICD9:282.49|DOID:1099|OMIM:604131|ICD10:D56.0|GARD:0000621|ICD9:282.43|MedDRA:10043390|Orphanet:846|UMLS:C0002312|SCTID:68913001 owl:Class MONDO:0000984 biolink:NamedThing thalassemia An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. tmpak2llvmy_mondo_relaxed.owl sickle-cell thalassemia with crisis|sickle-cell thalassemia without crisis|thalassemia Hb-S disease without crisis|thalassemia Hb-S disease with crisis ICD9:282.4|SCTID:40108008|ICD10:D56|ICD10:D56.9|GARD:0007756|DOID:10241|ICD9:282.40|ICD9:282.49|MESH:D013789|UMLS:C0039730|EFO:1001996|NCIT:C35069 owl:Class HP:0002912 biolink:NamedThing Methylmalonic acidemia Increased concentration of methylmalonic acid in the blood. tmpak2llvmy_mondo_relaxed.owl Elevated circulating methylmalonic acid concentration MSH:C537358|UMLS:C0268583|SNOMEDCT_US:42393006 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. HP:0003123|HP:0008295 human_phenotype owl:Class HP:0004341 biolink:NamedThing Abnormality of vitamin B12 metabolism tmpak2llvmy_mondo_relaxed.owl Abnormality of the vitamin B12 metabolism UMLS:C4021658 peter 2008-03-08T08:09:00Z human_phenotype owl:Class FOODON:03430131 biolink:NamedThing whole Refers to natural or formed shape as appropriate, regardless of size, which may vary from very large (e.g., beef carcass) to very small (e.g., poppy seed, yeast cell). tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03430113 biolink:NamedThing food physical quality The physical state of the food product (liquid, semiliquid, semisolid, or solid). Solid food products are further subdivided by shape or form. Terms are provided for products that have both liquid and solid components or that incorporate air or other gases. [FDA CFSAN 1995] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015690 biolink:NamedThing myeloid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. tmpak2llvmy_mondo_relaxed.owl myeloid/lymphoid neoplasm associated with PDGFRB rearrangement ICD10:D47.1|Orphanet:168950|SCTID:724642009 owl:Class MONDO:0015688 biolink:NamedThing myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 tmpak2llvmy_mondo_relaxed.owl myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Orphanet:168943 owl:Class HGNC:20773 biolink:NamedThing TUBB8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054804 biolink:NamedThing microcephaly 21, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl microcephaly 21, PRIMARY, autosomal recessive|MCPH21 UMLS:CN244930|OMIM:617983 owl:Class MONDO:0016660 biolink:NamedThing autosomal recessive primary microcephaly Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. tmpak2llvmy_mondo_relaxed.owl microcephaly, primary autosomal recessive|microcephaly, primary, autosomal recessive|MCPH|true microcephaly|microcephalia vera|microcephaly vera OMIMPS:251200|Orphanet:2512|SCTID:715981004|GARD:0012117|MESH:C579935|UMLS:C3711387|DOID:0070296|ICD10:Q02 https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly owl:Class MONDO:0017424 biolink:NamedThing non-syndromic brachydactyly tmpak2llvmy_mondo_relaxed.owl isolated brachydactyly|nonsyndromic brachydactyly|brachydactyly Orphanet:294937|SCTID:43476002 Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy owl:Class MONDO:0021004 biolink:NamedThing brachydactyly A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. tmpak2llvmy_mondo_relaxed.owl brachydactyly|brachydactyly (disease) brachydactyly (disease) DOID:0050581|HP:0001156|MESH:D059327 owl:Class MONDO:0003506 biolink:NamedThing pulmonary artery choriocarcinoma A rare choriocarcinoma that arises from a pulmonary artery. tmpak2llvmy_mondo_relaxed.owl pulmonary artery choriocarcinoma|syncytioma of the pulmonary artery|chorioepithelioma of pulmonary artery|pulmonary artery syncytioma|pulmonary artery chorioepithelioma|pulmonary artery choriocarcinoma (disease)|choriocarcinoma of the pulmonary artery|chorioepithelioma of the pulmonary artery|syncytioma of pulmonary artery|choriocarcinoma of pulmonary artery DOID:5547|UMLS:C1335571|NCIT:C5381 owl:Class MONDO:0006290 biolink:NamedThing malignant germ cell tumor A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the germ cell|malignant neoplasm of the germ cell|malignant germ cell tumor|cancer of germ cell|germ cell cancer|malignant neoplasm of germ cell|malignant germ cell neoplasm|germ cell tumor, malignant|malignant tumor of germ cell GARD:0003360|UMLS:C4048549|SCTID:145831000119103|EFO:1000352|NCIT:C4925 owl:Class MONDO:0025377 biolink:NamedThing African swine fever A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros). tmpak2llvmy_mondo_relaxed.owl wart Hog disease|wart-Hog disease|wart-Hog diseases|swine fever, African MESH:D000357|UMLS:C0001752 owl:Class MONDO:0025294 biolink:NamedThing tick-borne infectious disease Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic. tmpak2llvmy_mondo_relaxed.owl Tick-borne infection|Tick borne infections|infections, Tick-borne|diseases, Tick-borne|disease, Tick-borne|infection, Tick-borne|Tick borne diseases|Tick-borne infections|Tick-borne disease|infections, Tick borne MESH:D017282 owl:Class HP:0030718 biolink:NamedThing Right atrial enlargement Increase in size of the right atrium. tmpak2llvmy_mondo_relaxed.owl Enlarged heart right atrium|Dilated right atrium|Right atrial dilatation SNOMEDCT_US:67751000119106|Fyler:2859|UMLS:C0748427|Fyler:1771 This feature can be appreciated on chext radiography, MRI, or CT. human_phenotype owl:Class HP:0025580 biolink:NamedThing Abnormal right atrium morphology Any structural abnormality of the right atrium. tmpak2llvmy_mondo_relaxed.owl 2017-12-15 23:56:01+00:00 Fyler:1770 HPO:probinson human_phenotype owl:Class CL:0002457 biolink:NamedThing epidermal Langerhans cell A Langerhans cell that is in the epidermis and is CD45-positive, MHCII-positive, and CD11b-positive. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-11-22T03:57:57Z cell owl:Class CL:0000453 biolink:NamedThing Langerhans cell Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus. tmpak2llvmy_mondo_relaxed.owl LC|Langerhans' cell FMA:63072|CALOHA:TS-2375|BTO:0000705 Originally described in the dendritic cell ontology (DC_CL:0000021 )(PMID:19243617). These cells are also CD1a-high, CD14-negative, CD207-positive (langerin), CD324-positive (E-cadherin), and DCIR-positive. They reside in the epidermis. cell owl:Class MONDO:0005242 biolink:NamedThing empyema An accumulation of pus in a body cavity, usually the pleural space. tmpak2llvmy_mondo_relaxed.owl collection of pus EFO:0003097|NCIT:C34572|MESH:D004653|SCTID:312682007|ICD9:510 owl:Class MONDO:0005113 biolink:NamedThing bacterial infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. tmpak2llvmy_mondo_relaxed.owl Bacteria infectious disease|Bacteria disease or disorder|bacterial infectious disease|bacterial infection|infections, bacterial|Bacteria caused disease or disorder|bacterial disorder|infection, bacterial|bacterial disease UMLS:C0004623|EFO:0000771|ICD9:040.89|MESH:D001424|SCTID:87628006|ICD9:041.89|ICD10:A49|DOID:104|ICD9:041.9|ICD10:A49.9|NCIT:C2890 owl:Class HGNC:7584 biolink:NamedThing MYL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007764 biolink:NamedThing autosomal dominant osteosclerosis, Worth type Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. tmpak2llvmy_mondo_relaxed.owl Worth syndrome|hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus|hyperostosis corticalis generalisata, benign form of Worth with torus palatinus|endosteal hyperostosis, Worth type|osteosclerosis, autosomal dominant, Worth type|Ostéosclérose autosomique dominante type Worth|endosteal hyperostosis, autosomal dominant|osteosclerosis, autosomal dominant OMIM:144750|ICD10:Q78.2|GARD:0000390|Orphanet:2790 owl:Class MONDO:0005381 biolink:NamedThing bone disease Diseases of bones. tmpak2llvmy_mondo_relaxed.owl bone element disease or disorder|rare bone disease related to a common gene or pathway defect|disorder of bone element|disease or disorder of bone element|bone element disease|skeletal disease|disease of bone element UMLS:C0005940|Orphanet:364803|ICD9:731.8|ICD9:733.99|ICD10:M89.9|MESH:D001847|EFO:0004260|DOID:0080001|SCTID:76069003|UMLS:CN204768 owl:Class MONDO:0005787 biolink:NamedThing hepatic tuberculosis Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests. tmpak2llvmy_mondo_relaxed.owl tuberculosis of liver ICD9:017.90|MESH:D014386|EFO:0007302|UMLS:C0041313|DOID:407|SCTID:186273003 owl:Class MONDO:0002251 biolink:NamedThing hepatitis An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders. tmpak2llvmy_mondo_relaxed.owl animal hepatitis|acute and subacute liver necrosis|Hepatitides|liver inflammation|inflammation of liver|acute/subac. necrosis of liver|chronic hepatitis|Hepatitis|chronic persistent hepatitis|acute hepatitis|hepatitis NCIT:C3095|ICD9:570|ICD9:571.41|ICD9:571.40|DOID:2237|MESH:D006505|ICD9:571.4|SCTID:197268000|ICD10:K73.9|EFO:0008496 owl:Class MONDO:0007669 biolink:NamedThing renal cysts and diabetes syndrome Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. tmpak2llvmy_mondo_relaxed.owl RCAD syndrome|FJHN atypical|HNF1B-MODY|HNF1B-related renal cysts and diabetes syndrome|MODY type 5|maturity-onset diabetes of the young type 5|FJHN, atypical|hypoplastic type glomerulocystic kidney disease|familial hypoplastic glomerulocystic kidney|RCAD|renal cysts and diabetes syndrome|hyperuricemic nephropathy, familial juvenile, atypical|atypical FJHN|hepatocyte nuclear Factor 1-beta-associated monogenic diabetes|glomerulocystic kidney, familial hypoplastic|maturity onset diabetes of the Young, type 5|MODY5|atypical familial juvenile hyperuricemic nephropathy|renal dysfunction-early-onset diabetes syndrome|CAKUT with diabetes|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabetes|maturity-onset diabetes of the Young, type 5|glomerulocystic kidney disease, hypoplastic type OMIM:137920|NCIT:C123018|GARD:0010221|UMLS:C0431693|MESH:C535520|ICD10:E11.2|UMLS:CN206512|DOID:0111101|Orphanet:93111|SCTID:446641003 https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 owl:Class MONDO:0018911 biolink:NamedThing maturity-onset diabetes of the young MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. tmpak2llvmy_mondo_relaxed.owl maturity onset diabetes of the young|Mason type diabetes|Mason-type diabetes|MODY|maturity-onset diabetes of the young|maturity-onset diabetes of the young (disease) maturity-onset diabetes of the young (disease) KEGG:04950|MESH:C562772|HP:0004904|UMLS:C0342276|SCTID:609561005|ICD10:E11.9|NCIT:C114769|GARD:0003697|ICD10:E11.8|OMIM:606391|DOID:0050524|Orphanet:552 owl:Class CHEBI:37176 biolink:NamedThing mononuclear parent hydride tmpak2llvmy_mondo_relaxed.owl mononuclear parent hydrides|mononuclear hydrides|mononuclear hydride owl:Class CHEBI:33692 biolink:NamedThing hydrides Hydrides are chemical compounds of hydrogen with other chemical elements. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009567 biolink:NamedThing Marinesco-Sjogren syndrome Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. tmpak2llvmy_mondo_relaxed.owl Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism|Marinesco-Sjogren syndrome-myopathy|Marinesco-Sjogren-Garland syndrome|Marinesco-Sjogren syndrome|Garland-Moorhouse syndrome|MSS|Marinesco-Sjögren syndrome|Marinesco-Garland syndrome|oligophrenic cerebellolenticular degeneration|hereditary oligophrenic cerebello-lental degeneration DOID:0080195|OMIM:248800|UMLS:C0024814|Orphanet:559|ICD9:742.4|SCTID:80734006|GARD:0008341|ICD10:G11.1 owl:Class MONDO:0020165 biolink:NamedThing syndromic epicanthus tmpak2llvmy_mondo_relaxed.owl UMLS:CN227805|Orphanet:98574 owl:Class MONDO:0001034 biolink:NamedThing marginal corneal ulcer tmpak2llvmy_mondo_relaxed.owl UMLS:C0155067|DOID:10441|ICD9:370.01|ICD10:H16.04|SCTID:47398006 owl:Class MONDO:0004577 biolink:NamedThing corneal ulcer Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber. tmpak2llvmy_mondo_relaxed.owl ulcer disease of cornea|cornea ulcer disease|Ulcer, corneal SCTID:91514001|ICD10:H16.00|ICD9:370.00|UMLS:C0010043|DOID:8463|ICD10:H16.0|HP:0200020|ICD9:370.0|NCIT:C50515|MESH:D003320 owl:Class MONDO:0010752 biolink:NamedThing VACTERL association, X-linked, with or without hydrocephalus tmpak2llvmy_mondo_relaxed.owl VACTERL association with hydrocephaly, X-linked|X-linked VACTERL-H syndrome|VACTERLX|VACTERL association, X-linked, with or without hydrocephalus|VACTERL-H, X-linked DOID:0111766|GARD:0008498|UMLS:C2931228|OMIM:314390 owl:Class MONDO:0008642 biolink:NamedThing VACTERL/vater association VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. tmpak2llvmy_mondo_relaxed.owl VATER/VACTERL association|VATER syndrome|VATER association|VACTERL association|vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome NCIT:C99105|GARD:0005443|MedDRA:10053665|DOID:14679|Orphanet:887|UMLS:CN206312|UMLS:C1735591|MedDRA:10066022|ICD9:759.89|UMLS:C0220708|SCTID:27742002|ICD10:Q87.2|OMIM:192350 owl:Class GO:2000284 biolink:NamedThing positive regulation of cellular amino acid biosynthetic process Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular amino acid formation|positive regulation of cellular amino acid biosynthesis|positive regulation of cellular amino acid synthesis|positive regulation of amino acid biosynthetic process|positive regulation of cellular amino acid anabolism owl:Class GO:2000282 biolink:NamedThing regulation of cellular amino acid biosynthetic process Any process that modulates the frequency, rate or extent of cellular amino acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of cellular amino acid anabolism|regulation of cellular amino acid synthesis|regulation of cellular amino acid formation|regulation of cellular amino acid biosynthesis|regulation of amino acid biosynthetic process owl:Class UBERON:0002084 biolink:NamedThing heart left ventricle A cardiac ventricle that is in the left side of the heart. tmpak2llvmy_mondo_relaxed.owl cardiac left ventricle|left ventricle|left cardiac ventricle|left ventricle of heart|ventriculus sinister cordis owl:Class UBERON:0002082 biolink:NamedThing cardiac ventricle Cardiac chamber through which blood leaves the heart. tmpak2llvmy_mondo_relaxed.owl lower chamber of heart|heart ventricle|ventricle of heart|ventricle owl:Class HGNC:30935 biolink:NamedThing YY1AP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010412 biolink:NamedThing epididymal fat pad encapsulated adipose tissue associated with the epididymis tmpak2llvmy_mondo_relaxed.owl periepididymal fat pad owl:Class UBERON:0004120 biolink:NamedThing mesoderm-derived structure An anatomical structure that develops (entirely or partially) from the mesoderm. tmpak2llvmy_mondo_relaxed.owl mesodermal derivative owl:Class CL:0010003 biolink:NamedThing epithelial cell of alveolus of lung An epithelial cell that is part_of a alveolus of lung. tmpak2llvmy_mondo_relaxed.owl alveolus of lung epithelial cell May be merged with pneumocyte in future GOC:cjm owl:Class CL:0000066 biolink:NamedThing epithelial cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. tmpak2llvmy_mondo_relaxed.owl epitheliocyte CARO:0000077|FBbt:00000124|FMA:66768|BTO:0000414|WBbt:0003672|CALOHA:TS-2026 cell owl:Class MONDO:0017767 biolink:NamedThing rheumatic fever A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. tmpak2llvmy_mondo_relaxed.owl RHF - rheumatic fever|inflammatory rheumatism|ARF|acute rheumatic fever ICD10:I00-I02|GARD:0005699|MESH:D012213|ICD10:I01.2|DOID:1586|ICD9:390|UMLS:C0035436|ICD10:I01.1|NCIT:C34984|EFO:1001160|Orphanet:3099|ICD10:I01.0|ICD10:I01.8|ICD10:I01.9|MedDRA:10039054|ICD10:I00|SCTID:58718002|ICD9:390-392.99 https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever owl:Class MONDO:0021673 biolink:NamedThing post-bacterial disorder tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21062 biolink:NamedThing FARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000725 biolink:NamedThing regulation of cardiac muscle cell differentiation Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of heart muscle cell differentiation|regulation of cardiomyocyte differentiation owl:Class GO:0051153 biolink:NamedThing regulation of striated muscle cell differentiation Any process that modulates the frequency, rate or extent of striated muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013298 biolink:NamedThing chromosome 17q21.31 duplication syndrome The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. tmpak2llvmy_mondo_relaxed.owl chromosome 17q21.31 duplication syndrome|trisomy 17q21.31|dup(17)(q21.31)|17q21.31 microduplication syndrome OMIM:613533|UMLS:C3150787|ICD10:Q92.3|Orphanet:217340|DOID:0060434|SCTID:716683005|UMLS:C4274345 owl:Class MONDO:0000762 biolink:NamedThing syndrome caused by partial chromosomal duplication tmpak2llvmy_mondo_relaxed.owl chromosomal duplication syndrome DOID:0060429 Editor note: this is used in DOID to encompass typically partial duplications owl:Class ECTO:0000259 biolink:NamedThing exposure to glucocorticoid An exposure to glucocorticoid. tmpak2llvmy_mondo_relaxed.owl exposure to glucocorticoid owl:Class MONDO:0031219 biolink:NamedThing mismatch repair cancer syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:276300 owl:Class MONDO:0021190 biolink:NamedThing DNA repair disease A disease that has its basis in the disruption of DNA repair. tmpak2llvmy_mondo_relaxed.owl deficiency of DNA repair|DNA repair, deficient|DNA repair deficiency|DNA Repairs, deficient|disorder, DNA repair-deficiency|Repairs, deficient DNA|DNA repair-deficiency disorder|deficient DNA Repairs|chromosome instability syndrome|disorders, DNA repair-deficiency|DNA repair disorder|disorder of DNA repair|DNA repair-deficiency|chromosome instability syndromes|repair, deficient DNA|deficient DNA repair|DNA repair-deficiencies|syndrome, chromosome instability|syndromes, chromosome instability|DNA repair deficiency disorders MESH:D049914|NCIT:C7757|EFO:0008499 owl:Class MONDO:0010133 biolink:NamedThing thyroid dyshormonogenesis 2A Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. tmpak2llvmy_mondo_relaxed.owl familial thyroid dyshormonogenesis caused by mutation in TPO|TDH2A|TPO familial thyroid dyshormonogenesis|hypothyroidism, congenital, due to dyshormonogenesis, 2A|thyroid peroxidase deficiency|iodide peroxidase deficiency|thyroid dyshormonogenesis 2A|thyroid dyshormonogenesis type 2A|thyroid hormonogenesis, genetic defect in, 2A UMLS:C1291299|MESH:C563206|SCTID:124204003|ICD9:277.6|OMIM:274500|NCIT:C121750 owl:Class MONDO:0045046 biolink:NamedThing inherited thyroid metabolism disease An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of thyroid hormone metabolic process|inherited disorder of thyroid metabolism|inborn thyroid hormone metabolic process disorder|inborn error of thyroid hormone metabolic process ICD9:246.8|SCTID:36985004|UMLS:C0271824 owl:Class MONDO:0012337 biolink:NamedThing glaucoma 1, open angle, I tmpak2llvmy_mondo_relaxed.owl GLC1I|glaucoma 1, open angle, I UMLS:C1857852|MESH:C565724|OMIM:609745 owl:Class MONDO:0018174 biolink:NamedThing hereditary glaucoma Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. tmpak2llvmy_mondo_relaxed.owl glaucoma, hereditary|hereditary glaucoma (disease) UMLS:CN227278|Orphanet:359|GARD:0002486|MESH:C580055 https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary owl:Class MONDO:0009535 biolink:NamedThing lymphedema, congenital recessive tmpak2llvmy_mondo_relaxed.owl lymphedema, congenital recessive 2022-01-01 OMIM:247440|MESH:C565432|UMLS:C1855475 Reason: out of scope. Term to consider: MONDO:0007919. MONDO:0007919 owl:Class MONDO:0008601 biolink:NamedThing triglyceride storage disease, type 1 tmpak2llvmy_mondo_relaxed.owl triglyceride storage disease, type I OMIM:190420|MESH:C566031|UMLS:C1860821 owl:Class MONDO:0000155 biolink:NamedThing triglyceride storage disease An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride. tmpak2llvmy_mondo_relaxed.owl rare inborn error of sequestering of triglyceride|inborn error of sequestering of triglyceride|inborn sequestering of triglyceride disorder See text of OMIM 190430. owl:Class MONDO:0002123 biolink:NamedThing calcinosis Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. tmpak2llvmy_mondo_relaxed.owl deposit(s), calcium|calcium deposit(s)|calcification|macrocalcification|pathologic calcification|pathologically calcified structure ICD9:275.49|DOID:182|EFO:0003837|SCTID:6595006|HP:0003761|NCIT:C3672|MESH:D002114 owl:Class MONDO:0005557 biolink:NamedThing calcium metabolic disease Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. tmpak2llvmy_mondo_relaxed.owl calcium metabolism disorder|calcium metabolism disease|disorder of calcium metabolism EFO:0005769|ICD10:E83.5|DOID:10575|UMLS:C0006705|SCTID_2010_1_31:71638002|ICD9:275.49|ICD9:275.4|SCTID_2010_1_31:267442002|MESH:D002128|SCTID_2010_1_31:190874007|ICD10:E83.50|SCTID_2010_1_31:190863003|ICD9:275.40|SCTID:71638002 Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. owl:Class NCBITaxon:1980410 biolink:NamedThing Bunyavirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2497576 biolink:NamedThing Ellioviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020290 biolink:NamedThing atrioventricular septal defect A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. tmpak2llvmy_mondo_relaxed.owl atrioventricular canal defect|ECD|AVCD|atrioventricular septal defect|AVSD|endocardial cushion defect|AV septal defect|common atrioventricular canal|common AV canal Orphanet:98722|DOID:0050651|SCTID:15459006|NCIT:C101029|GARD:0000802|ICD9:745.6|OMIMPS:606215|ICD10:Q21.2|ICD9:745.60|ICD9:745.69 owl:Class MONDO:0002078 biolink:NamedThing heart septal defect A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. tmpak2llvmy_mondo_relaxed.owl holes in the heart|Cardiac septal defects|congenital septal defect of heart|septal defect|congenital septal defect ICD9:745.9|NCIT:C84482|UMLS:C0018816|DOID:1681|SCTID:253273004|ICD10:Q21.9|ICD9:745.8|ICD10:Q21|MESH:D006343 owl:Class UBERON:0010708 biolink:NamedThing pectoral complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. tmpak2llvmy_mondo_relaxed.owl upper limb and shoulder|pectoral appendage/girdle complex|pectoral girdle plus anterior limb or fin|pectoral girdle plus pectoral limb or fin|upper limb|upper limb and pectoral girdle owl:Class OBO:CARO_0000003 biolink:NamedThing connected anatomical structure tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12417 biolink:NamedThing TUBG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009880 biolink:NamedThing short stature-pituitary and cerebellar defects-small sella turcica syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). tmpak2llvmy_mondo_relaxed.owl pituitary hormone deficiency, combined with or without cerebellar defects|pituitary hormone deficiency, combined, type 4|pituitary hormone deficiency, combined 4|CPHD4|short stature, pituitary and cerebellar defects, and small sella turcica|short stature, pituitary and cerebellar defects and small sella turcica|pituitary hormone deficiency, combined, with or without cerebellar defects|pituitary hormone deficiency, combined, 4 UMLS:C2678408|MESH:C567492|Orphanet:85442|OMIM:262700|GARD:0010604 owl:Class MONDO:0013099 biolink:NamedThing combined pituitary hormone deficiencies, genetic form Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. tmpak2llvmy_mondo_relaxed.owl pituitary hormone deficiency, combined|multiple pituitary hormone deficiencies, genetic forms|genetic hypopituitarism|familial hypopituitarism|familial congenital hypopituitarism|combined pituitary hormone deficiencies, genetic forms SCTID:718182008|Orphanet:95494|GARD:0010602|GARD:0002252|OMIMPS:613038|ICD10:E23.0 https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism owl:Class MONDO:0023018 biolink:NamedThing dupont sellier chochillon syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001983 https://rarediseases.info.nih.gov/diseases/1983/dupont-sellier-chochillon-syndrome owl:Class MONDO:0002254 biolink:NamedThing syndromic disease A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. tmpak2llvmy_mondo_relaxed.owl syndromic disease|syndromic disease or disorder|symptom cluster|syndrome|syndrome associated with disease or disorder|cluster, symptom|clusters, symptom|syndromes|symptom clusters MESH:D013577|OGMS:0000086|NCIT:C28193|UMLS:C0039082|DOID:225 owl:Class UBERON:0036658 biolink:NamedThing wall of central canal of spinal cord tmpak2llvmy_mondo_relaxed.owl wall of central canal owl:Class UBERON:0000060 biolink:NamedThing anatomical wall Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. tmpak2llvmy_mondo_relaxed.owl wall of organ|organ wall|wall owl:Class MONDO:0000520 biolink:NamedThing parietal lobe ependymal tumor An ependymal tumor affecting the parietal lobe of the brain. tmpak2llvmy_mondo_relaxed.owl ependymal tumor of parietal lobe|parietal lobe ependymal tumor|parietal lobe ependymoma DOID:0050903|NCIT:C131575|UMLS:C4330935 owl:Class MONDO:0001952 biolink:NamedThing parietal lobe cancer A malignant neoplasm involving the parietal lobe tmpak2llvmy_mondo_relaxed.owl cancer of parietal lobe|malignant neoplasm of parietal lobe|malignant parietal lobe neoplasm|parietal lobe neoplasm|parietal lobe cancer DOID:14384|SCTID:363469001|UMLS:C0153637|ICD9:191.3|ICD10:C71.3 owl:Class MONDO:0054591 biolink:NamedThing Stankiewicz-Isidor syndrome A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems. tmpak2llvmy_mondo_relaxed.owl STISS|Stankiewicz-Isidor syndrome OMIM:617516|UMLS:C4479599 owl:Class MONDO:0010371 biolink:NamedThing Aland island eye disease An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. tmpak2llvmy_mondo_relaxed.owl Aland island eye disease|FORSIUS-Eriksson type ocular albinism|Forsius-Eriksson type ocular albinism|Forsius Eriksson type ocular albinism|AIED|Forsius-Eriksson syndrome|Åland Islands eye disease|ALAND ISLAND eye disease UMLS:C0268505|ICD10:H35.5|SCTID:266455006|DOID:0050630|OMIM:300600|MESH:C562664|Orphanet:178333|GARD:0010574 owl:Class MONDO:0000425 biolink:NamedThing X-linked disease X-linked form of disease. tmpak2llvmy_mondo_relaxed.owl X-linked disease or disorder|disease or disorder, X-linked|genetic disease, X-linked|X-linked inherited disorder|X linked genetic diseases|X-linked genetic diseases|disease, X-linked genetic|X-linked inherited disease|diseases, X-linked genetic|genetic diseases, X linked|disease, X-linked|X-linked hereditary disorder|genetic diseases, X chromosome linked|X-linked hereditary disease|X-linked genetic disease|genetic diseases, X-chromosome linked NCIT:C85865|ICD9:799.89|DOID:0050735|UMLS:C1138434|SCTID:128430005|MESH:D040181|UMLS:C2828000 owl:Class MONDO:0015012 biolink:NamedThing mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders tmpak2llvmy_mondo_relaxed.owl mucopolysaccharidosis-plus syndrome|mucopolysaccharidosis-like plus disease|MPSPS Orphanet:505248|OMIM:617303|UMLS:C4310627 owl:Class MONDO:0003917 biolink:NamedThing heart lymphoma An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope. tmpak2llvmy_mondo_relaxed.owl primary Cardiac lymphoma|Primary heart lymphoma|lymphoma of heart|Cardiac lymphoma|PCL|heart lymphoma|lymphoma of the heart DOID:6547|NCIT:C5368|UMLS:C1332850 owl:Class GO:0005496 biolink:NamedThing steroid binding Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0097159 biolink:NamedThing organic cyclic compound binding Binding to an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010728 biolink:NamedThing SCARF syndrome SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. tmpak2llvmy_mondo_relaxed.owl skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities|SCARF syndrome OMIM:312830|Orphanet:3134|MESH:C536625|ICD10:Q82.8|GARD:0000247|UMLS:C1839321|SCTID:734173003 owl:Class MONDO:0010215 biolink:NamedThing xeroderma pigmentosum group F Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. tmpak2llvmy_mondo_relaxed.owl XPF|xeroderma pigmentosum, type F/Cockayne syndrome|XP-F|xeroderma pigmentosum, type 6|xeroderma pigmentosum group type F|xeroderma pigmentosum group F|xeroderma pigmentosum, complementation group type F|xeroderma pigmentosum VI|xeroderma pigmentosum 6|xeroderma pigmentosum, complementation group F|ERCC4 xeroderma pigmentosum|XP group F|xeroderma pigmentosum caused by mutation in ERCC4|XP, group F|XP6 SCTID:42530008|ICD10:Q82.1|Orphanet:276264|MESH:C562592|GARD:0005628|DOID:0110848|OMIM:278760|NCIT:C3968 owl:Class GO:0045722 biolink:NamedThing positive regulation of gluconeogenesis Any process that activates or increases the frequency, rate or extent of gluconeogenesis. tmpak2llvmy_mondo_relaxed.owl up regulation of gluconeogenesis|up-regulation of gluconeogenesis|upregulation of gluconeogenesis|activation of gluconeogenesis|stimulation of gluconeogenesis owl:Class GO:0006111 biolink:NamedThing regulation of gluconeogenesis Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. tmpak2llvmy_mondo_relaxed.owl regulation of glucose biosynthetic process|regulation of glucose biosynthesis|regulation of gluconeogenesis involved in cellular glucose homeostasis owl:Class MONDO:0012813 biolink:NamedThing retinitis pigmentosa 29 A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34. tmpak2llvmy_mondo_relaxed.owl RP 29|retinitis pigmentosa type 29|RP29|retinitis pigmentosa 29 UMLS:C2677325|MESH:C567403|GARD:0010378|DOID:0110378|OMIM:612165|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10378/retinitis-pigmentosa-29 owl:Class MONDO:0006292 biolink:NamedThing malignant mesothelioma A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the mesothelium|malignant mesothelioma (disease)|asbestos-related malignant mesothelioma|malignant mesothelial tumor|malignant mesothelioma|MESOM|diffuse malignant mesothelioma|advanced malignant mesothelioma|malignant mesothelial neoplasm|malignant neoplasm of the mesothelium|malignant tumor of mesothelium|malignant neoplasm of mesothelium|mesothelioma, malignant malignant mesothelioma (disease) OMIM:156240|ICDO:9050/3|MESH:C562839|Orphanet:50251|UMLS:C0345967|ICD10:C45.0|EFO:1000355|HP:0100001|ICD9:199.1|UMLS:C0278752|GARD:0007026|DOID:1790|UMLS:C1332338|NCIT:C4456|MedDRA:10027406|SCTID:109378008 owl:Class MONDO:0005065 biolink:NamedThing mesothelioma A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos. tmpak2llvmy_mondo_relaxed.owl mesothelioma UMLS:C0025500|EFO:0000588|MESH:D008654|NCIT:C3234|ICD10:C45 owl:Class MONDO:0004478 biolink:NamedThing pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years. tmpak2llvmy_mondo_relaxed.owl CLL/SLL with unmutated IGVH|chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene|pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma DOID:8144|NCIT:C37204|UMLS:C1333038 owl:Class MONDO:0003864 biolink:NamedThing chronic lymphocytic leukemia/small lymphocytic lymphoma An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood. tmpak2llvmy_mondo_relaxed.owl chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)|CLL/SLL|chronic lymphocytic leukemia/small lymphocytic lymphoma ONCOTREE:CLLSLL|NCIT:C27911|ICDO:9823/3|UMLS:C1302547|DOID:6354 owl:Class MONDO:0013048 biolink:NamedThing hereditary spastic paraplegia 50 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 50|spastic quadriplegic cerebral palsy 3|AP4M1 hereditary spastic paraplegia|spastic paraplegia 50, autosomal recessive|hereditary spastic paraplegia caused by mutation in AP4M1|cerebral palsy, spastic quadriplegic, 3|SPG50|cerebral palsy, spastic quadriplegic, 3, formerly|autosomal recessive spastic paraplegia 50 OMIM:612936|UMLS:C2752008|DOID:0110802|MESH:C567858 owl:Class MONDO:0017241 biolink:NamedThing AP4-related intellectual disability and spastic paraplegia A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene. tmpak2llvmy_mondo_relaxed.owl severe intellectual disability and progressive spastic paraplegia|AP4 deficiency syndrome|AP4 related intellectual disability and spastic paraplegia Orphanet:280763|UMLS:CN202757 owl:Class CL:0000188 biolink:NamedThing cell of skeletal muscle A somatic cell located in skeletal muscle. tmpak2llvmy_mondo_relaxed.owl skeletal muscle cell CALOHA:TS-2158|FMA:9727|BTO:0004392 cell owl:Class CL:0002371 biolink:NamedThing somatic cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). tmpak2llvmy_mondo_relaxed.owl WBbt:0008378|BTO:0001268|FMA:72300 tmeehan 2010-09-24T09:44:42Z cell owl:Class MONDO:0020372 biolink:NamedThing early-onset sutural cataract tmpak2llvmy_mondo_relaxed.owl early-onset cataract with Y-shaped suture opacities Orphanet:98985|ICD10:Q12.0 owl:Class MONDO:0020379 biolink:NamedThing early-onset zonular cataract tmpak2llvmy_mondo_relaxed.owl UMLS:CN207251|ICD10:Q12.0|GARD:0001898|Orphanet:98995 https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract owl:Class MONDO:0017598 biolink:NamedThing primary cutaneous anaplastic large cell lymphoma Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features. tmpak2llvmy_mondo_relaxed.owl ALCL, cutaneous|C-ALCL|primary C-ALCL|primary cutaneous CD30+ anaplastic large cell lymphoma|primary anaplastic large cell lymphoma of the skin|primary cutaneous CD30 Positive anaplastic large cell lymphoma|primary anaplastic large cell lymphoma of skin|regressive atypical histiocytosis|anaplastic large-cell lymphoma, primary cutaneous type|primary cutaneous CD30+ ALCL NCIT:C6860|MESH:D054446|MedDRA:10065863|UMLS:C1301362|ONCOTREE:PCALCL|ICD10:C86.6|Orphanet:300865 owl:Class MONDO:0020325 biolink:NamedThing anaplastic large cell lymphoma Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL. tmpak2llvmy_mondo_relaxed.owl Ki-1+ anaplastic large cell lymphoma|CD30 positive anaplastic large cell lymphoma|anaplastic large cell lymphoma|primary systemic ALCL|Ki-1+ ALCL|CD30 Positive anaplastic large cell lymphoma|sACL|ALCL|Ki-1 lymphoma|Ki-1 positive anaplastic large cell lymphoma SCTID:277637000|MESH:D017728|ICD9:200.60|ICDO:9714/3|ICD10:C84.6|ICD10:C84.7|Orphanet:98841|NCIT:C3720|DOID:0050744|HGNC:427|GARD:0003112|UMLS:C0206180|EFO:0003032|ONCOTREE:ALCL|ICD9:200.6 https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma owl:Class MONDO:0012280 biolink:NamedThing Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. tmpak2llvmy_mondo_relaxed.owl megacolon-microcephaly syndrome|Goldberg-Shprintzen syndrome|GOSHS|Goldberg-Shprintzen megacolon syndrome SCTID:717822006|GARD:0009849|OMIM:609460|UMLS:C1836123|ICD10:Q87.8|MESH:C537279|Orphanet:66629|DOID:0060481 owl:Class MONDO:0018751 biolink:NamedThing genetic otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic otorhinolaryngologic disease Orphanet:466084|UMLS:CN242186 owl:Class MONDO:0019006 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. tmpak2llvmy_mondo_relaxed.owl familial idiopathic nephrotic syndrome UMLS:C1868672|ICD10:N04.3|UMLS:CN536255|ICD10:N04.8|Orphanet:656|SCTID:718141008|ICD10:N04.1|UMLS:C4273714 owl:Class MONDO:0002350 biolink:NamedThing familial nephrotic syndrome An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl congenital nephrotic syndrome|hereditary nephrotic syndrome OMIMPS:256300|NCIT:C35337|ICD10:N04|UMLS:C3501848|UMLS:CN043611|DOID:2590|SCTID:48796009 owl:Class HGNC:15974 biolink:NamedThing TRIM2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030073 biolink:NamedThing insulin secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009306 biolink:NamedThing protein secretion The controlled release of proteins from a cell. tmpak2llvmy_mondo_relaxed.owl protein secretion during cell fate commitment|glycoprotein secretion|protein secretion resulting in cell fate commitment owl:Class MONDO:0014140 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 tmpak2llvmy_mondo_relaxed.owl Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14|muscle-eye-brain-GMPPB related|MDDGA14 UMLS:C3809216|OMIM:615350|DOID:0111233 owl:Class MONDO:0000171 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type A tmpak2llvmy_mondo_relaxed.owl hard +/- E syndrome|hydrocephalus-agyria-retinal dysplasia syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|Chemke syndrome|cerebroocular dysplasia muscular dystrophy syndrome|WWS|Walker-Warburg syndrome|hard syndrome|hydrocephalus, agyria and retinal dysplasia|Walker-Warburg muscular dystrophy|Pagon syndrome|Warburg syndrome|cerebroocular dysgenesis DOID:0050560|NCIT:C99109|MESH:D058494|GARD:0002599|OMIMPS:236670|Orphanet:899|UMLS:CN239483|ICD10:Q04.3|SCTID:111504002 owl:Class ECTO:4000001 biolink:NamedThing exposure to increased temperature A exposure event involving the interaction of an exposure receptor to increased temperature. tmpak2llvmy_mondo_relaxed.owl increased temperature exposure owl:Class ECTO:0010003 biolink:NamedThing exposure to environmental physical object quality A exposure event involving the interaction of an exposure receptor to physical object quality. tmpak2llvmy_mondo_relaxed.owl physical object quality exposure owl:Class GO:0008172 biolink:NamedThing S-methyltransferase activity Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008168 biolink:NamedThing methyltransferase activity Catalysis of the transfer of a methyl group to an acceptor molecule. tmpak2llvmy_mondo_relaxed.owl methylase owl:Class HGNC:4877 biolink:NamedThing HESX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001719 biolink:NamedThing gonococcal bursitis An bursitis caused by infection with Neisseria gonorrhoeae. tmpak2llvmy_mondo_relaxed.owl Neisseria gonorrhoeae caused bursitis|Neisseria gonorrhoeae bursitis ICD10:A54.49|DOID:13453|ICD9:098.52|SCTID:46699001|ICD10:M73.0|UMLS:C0153218 owl:Class MONDO:0002471 biolink:NamedThing bursitis Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. tmpak2llvmy_mondo_relaxed.owl capsulitis, adhesive|adhesive capsulitis of the shoulder|adhesive capsulitis|Capsulitides, adhesive|Capsulitides, shoulder adhesive|frozen shoulders|adhesive Capsulitides|capsulitis|synovial bursa inflammation|capsulitis, shoulder adhesive|adhesive Capsulitides, shoulder|Bursitides|Capsulitides|inflammation of synovial bursa|frozen shoulder|shoulder adhesive capsulitis|adhesive capsulitis, shoulder|shoulders, frozen|shoulder, frozen|shoulder adhesive Capsulitides UMLS:C0006444|NCIT:C94407|MESH:D002062|DOID:2965|ICD9:727.3|ICD10:M71.9|SCTID:84017003 owl:Class MONDO:0006271 biolink:NamedThing low grade central osteosarcoma A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma. tmpak2llvmy_mondo_relaxed.owl intraosseous well-differentiated osteosarcoma|low grade central osteosarcoma|intraosseous well-differentiated osteogenic sarcoma|low-grade intramedullary osteosarcoma|low-grade central osteosarcoma|low grade intramedullary osteosarcoma NCIT:C6474|UMLS:C3814534|ICDO:9187/3|UMLS:C1266163|ONCOTREE:LGCOS|EFO:1000327 owl:Class MONDO:0009807 biolink:NamedThing osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. tmpak2llvmy_mondo_relaxed.owl osteoid sarcoma|bone tissue neoplasm|sarcoma of osteoid|osteosarcoma, malignant|osteosarcoma|osteosarcoma (disease)|osteogenic sarcoma osteosarcoma (disease) DOID:3347|EFO:0000637|HP:0002669|NCIT:C9145|ONCOTREE:OS|ICDO:9180/3 owl:Class GO:0044264 biolink:NamedThing cellular polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular polysaccharide metabolism|cellular glycan metabolism|cellular glycan metabolic process owl:Class GO:0005976 biolink:NamedThing polysaccharide metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpak2llvmy_mondo_relaxed.owl glycan metabolism|polysaccharide metabolism|multicellular organismal polysaccharide metabolic process|glycan metabolic process owl:Class GO:1902624 biolink:NamedThing positive regulation of neutrophil migration Any process that activates or increases the frequency, rate or extent of neutrophil migration. tmpak2llvmy_mondo_relaxed.owl activation of neutrophil migration|up-regulation of neutrophil migration|up regulation of neutrophil migration|upregulation of neutrophil migration owl:Class GO:1902622 biolink:NamedThing regulation of neutrophil migration Any process that modulates the frequency, rate or extent of neutrophil migration. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0035121 biolink:NamedThing myeloid/lymphoid neoplasm associated with JAK2 rearrangement tmpak2llvmy_mondo_relaxed.owl myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542|NCIT:C129853 owl:Class NCBITaxon:41819 biolink:NamedThing Ceratopogonidae tmpak2llvmy_mondo_relaxed.owl biting midges|no-see-ums GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41828 biolink:NamedThing Chironomoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000271 biolink:NamedThing tuberculous salpingitis An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube. tmpak2llvmy_mondo_relaxed.owl fallopian tube tuberculosis ICD9:016.6|ICD9:016.60|ICD10:A18.17|DOID:0050166|SCTID:49558004|UMLS:C0275933 owl:Class MONDO:0003619 biolink:NamedThing salpingitis Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. tmpak2llvmy_mondo_relaxed.owl fallopian tube inflammation|inflammation of fallopian tube UMLS:C0036130|MESH:D012488|ICD10:N70.91|SCTID:88157006|DOID:5733|NCIT:C26880 owl:Class GO:1900249 biolink:NamedThing positive regulation of cytoplasmic translational elongation Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation. tmpak2llvmy_mondo_relaxed.owl upregulation of cytoplasmic translational elongation|up-regulation of cytoplasmic translational elongation|up regulation of cytoplasmic translational elongation|activation of cytoplasmic translational elongation owl:Class GO:0045901 biolink:NamedThing positive regulation of translational elongation Any process that activates or increases the frequency, rate or extent of translational elongation. tmpak2llvmy_mondo_relaxed.owl upregulation of translational elongation|activation of translational elongation|up regulation of translational elongation|stimulation of translational elongation|up-regulation of translational elongation owl:Class GO:0014058 biolink:NamedThing negative regulation of acetylcholine secretion, neurotransmission Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of acetylcholine. tmpak2llvmy_mondo_relaxed.owl inhibition of acetylcholine secretion|down-regulation of acetylcholine secretion|downregulation of acetylcholine secretion|down regulation of acetylcholine secretion owl:Class GO:0046929 biolink:NamedThing negative regulation of neurotransmitter secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a neurotransmitter. tmpak2llvmy_mondo_relaxed.owl inhibition of neurotransmitter secretion|downregulation of neurotransmitter secretion|down regulation of neurotransmitter secretion|conotoxin activity|down-regulation of neurotransmitter secretion owl:Class GO:0061526 biolink:NamedThing acetylcholine secretion The regulated release of acetylcholine by a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0023061 biolink:NamedThing signal release The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. tmpak2llvmy_mondo_relaxed.owl signal secretion owl:Class MONDO:0007540 biolink:NamedThing multiple endocrine neoplasia type 1 Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. tmpak2llvmy_mondo_relaxed.owl Wermer syndrome|multiple endocrine neoplasia type 1 syndrome|multiple endocrine neoplasia, type 1|endocrine adenomatosis, multiple|multiple endocrine adenomatosis type 1|MEN1 multiple endocrine neoplasia|Wermer's syndrome|men type I|MEA 1|men type 1|multiple endocrine adenomatosis type I|multiple endocrine adenomatosis|MEA type 1|multiple endocrine neoplasia caused by mutation in MEN1|endocrine adenomatosis multiple|MEN1 somatic mutations|MEN1 syndrome|multiple endocrine adenomatosis, type I|men 1|multiple endocrine neoplasia, type I|MEA type I|multiple endocrine neoplasia type I|multiple endocrine neoplasia type 1|MEN1 ICD10:E31.21|Orphanet:652|ICD9:258.01|MedDRA:10028190|UMLS:C0025267|NCIT:C3225|GARD:0003829|MESH:D018761|ICD10:D44.8|DOID:10017|SCTID:30664006|ICD9:237.4|OMIM:131100 https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1 owl:Class MONDO:0018538 biolink:NamedThing inherited digestive cancer-predisposing syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:425003|UMLS:CN237539 owl:Class MONDO:0011895 biolink:NamedThing idiopathic hypereosinophilic syndrome tmpak2llvmy_mondo_relaxed.owl hypereosinophilic syndrome, idiopathic|HES OMIM:607685|ICD10:D47.5|Orphanet:3260|UMLS:C0206141|SCTID:423294001 owl:Class MONDO:0005110 biolink:NamedThing idiopathic cardiomyopathy A disease of the heart muscle or myocardium proper whose cause is unknown. tmpak2llvmy_mondo_relaxed.owl NCIT:C53654|EFO:0000767 owl:Class MONDO:0021404 biolink:NamedThing polyp of sphenoidal sinus A polyp that involves the sphenoidal sinus. tmpak2llvmy_mondo_relaxed.owl polyp of the sphenoid sinus|sphenoidal sinus polyp|polyp of the sphenoidal sinus|sphenoid sinus polyp|polyp of sphenoid sinus NCIT:C3933|ICD9:471.8|SCTID:90685008|UMLS:C0264255 owl:Class MONDO:0005079 biolink:NamedThing polyp A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. tmpak2llvmy_mondo_relaxed.owl polyp SCTID:441456002|EFO:0000662|MESH:D011127|ICD10:N84|NCIT:C3340 owl:Class GO:1905083 biolink:NamedThing negative regulation of mitochondrial translational elongation Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation. tmpak2llvmy_mondo_relaxed.owl downregulation of mitochondrial translational elongation|down regulation of mitochondrial translational elongation|down-regulation of mitochondrial translational elongation|down-regulation of mitochondrial translation elongation|negative regulation of mitochondrial translation elongation|down regulation of mitochondrial translation elongation|inhibition of mitochondrial translational elongation|downregulation of mitochondrial translation elongation|inhibition of mitochondrial translation elongation owl:Class GO:0045900 biolink:NamedThing negative regulation of translational elongation Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation. tmpak2llvmy_mondo_relaxed.owl down regulation of translational elongation|down-regulation of translational elongation|inhibition of translational elongation|downregulation of translational elongation owl:Class MONDO:0011577 biolink:NamedThing myopathy, proximal, and ophthalmoplegia tmpak2llvmy_mondo_relaxed.owl MYPOP|MYOPATHY, proximal, and ophthalmoplegia|inclusion body myopathy 3, autosomal dominant|myopathy, proximal, and ophthalmoplegia|myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|inclusion body myopathy 3, autosomal dominant, formerly UMLS:C1854106|MESH:C565311|OMIM:605637 owl:Class HGNC:2204 biolink:NamedThing COL4A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005008 biolink:NamedThing colorectal adenocarcinoma The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl colorectum adenocarcinoma|adenocarcinoma of the large bowel|colorectal adenocarcinoma|adenocarcinoma of large intestine|adenocarcinoma of large bowel|adenocarcinoma of the large intestine|large bowel adenocarcinoma|colorectal (colon or rectal) adenocarcinoma|large intestine adenocarcinoma UMLS:C1319315|NCIT:C5105|EFO:0000365|DOID:0050913|SCTID:408645001|ONCOTREE:COADREAD|DOID:0050861 Editor note: we follow NCIT in treating colorectal and large intestine as equivalent MONDO:0000528 owl:Class MONDO:0001640 biolink:NamedThing gonococcal spondylitis An spondylitis caused by infection with Neisseria gonorrhoeae. tmpak2llvmy_mondo_relaxed.owl DOID:13127|UMLS:C0153219|ICD9:098.53|SCTID:53664003 owl:Class MONDO:0100099 biolink:NamedThing retrograde cricopharyngeus dysfunction A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD. tmpak2llvmy_mondo_relaxed.owl R-CPD http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3712 owl:Class UBERON:0002113 biolink:NamedThing kidney A paired organ of the urinary tract which has the production of urine as its primary function. tmpak2llvmy_mondo_relaxed.owl reniculate kidney owl:Class MONDO:0005719 biolink:NamedThing Coronavinae infectious disease Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine). tmpak2llvmy_mondo_relaxed.owl EFO:0007224|MESH:D018352 owl:Class MONDO:0010535 biolink:NamedThing Bazex-Dupre-Christol syndrome Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas. tmpak2llvmy_mondo_relaxed.owl follicular atrophoderma and basal cell carcinomas|acrokeratosis of Bazex|BZX|Bazex-Dupré-Christol syndrome|acrokeratosis paraneoplastica of Bazex|Bazex-Dupre-Christol syndrome|follicular atrophoderma-basal cell carcinoma syndrome|follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome|BDCS|acrokeratosis paraneoplastica|Bazex syndrome ICD9:757.39|Orphanet:113|SCTID:238640007|SCTID:254820002|OMIM:301845|ICD10:L98.8|GARD:0000838|UMLS:CN200039|Orphanet:166113|UMLS:C0406355 owl:Class MONDO:0015331 biolink:NamedThing malformation syndrome with skin/mucosae involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:139027|UMLS:CN199361 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class NCBITaxon:91827 biolink:NamedThing Gunneridae tmpak2llvmy_mondo_relaxed.owl core eudicots|core eudicotyledons GC_ID:1 NCBITaxon:1437200 ncbi_taxonomy owl:Class NCBITaxon:71240 biolink:NamedThing eudicotyledons tmpak2llvmy_mondo_relaxed.owl eudicots|dicotyledons|dicots|Dicotyledoneae GC_ID:1|PMID:26724406|PMID:25249442 NCBITaxon:3399 ncbi_taxonomy owl:Class HGNC:3969 biolink:NamedThing FSHR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006165 biolink:NamedThing nucleoside diphosphate phosphorylation The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009132 biolink:NamedThing nucleoside diphosphate metabolic process The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl nucleoside diphosphate metabolism owl:Class MONDO:0000922 biolink:NamedThing pelvic inflammatory disease Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection. tmpak2llvmy_mondo_relaxed.owl PID, pelvic inflammatory disease|pelvic inflammatory disease|pelvic inflammatory disease, (PID)|inflammatory disease (PID), pelvic|PID|disease (PID), pelvic inflammatory|pelvic infection ICD10:N70-N77|ICD9:614-616.99|SCTID:198130006|ICD9:614.8|ICD9:614.9|ICD10:N73.9|NCIT:C3889|UMLS:C0242172|EFO:1001388|MESH:D000292|DOID:1003 owl:Class MONDO:0011804 biolink:NamedThing autoimmune lymphoproliferative syndrome type 2B Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. tmpak2llvmy_mondo_relaxed.owl caspase-8 deficiency|ALPS with recurrent viral infections|CASP8 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome with recurrent viral infections|Ceds|autoimmune lymphoproliferative syndrome, type 2B|autoimmune lymphoproliferative syndrome type IIB|autoimmune lymphoproliferative syndrome caused by mutation in CASP8|CEDS|caspase 8 deficiency|caspase eight deficiency state|ALPS2B|caspase 8 deficiency syndrome OMIM:607271|Orphanet:275517|GARD:0009796|ICD10:D47.9|DOID:0110116|SCTID:722290008 owl:Class MONDO:0017979 biolink:NamedThing autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. tmpak2llvmy_mondo_relaxed.owl ALPS (autoimmune lymphoproliferative syndrome)|autoimmune lymphoproliferative syndrome type 1, autosomal dominant|ALPS|Canale-Smith syndrome|FAS deficiency NCIT:C37864|ICD10:D89.82|CSP:1560-5548|DOID:6688|GARD:0008686|ICD9:279.41|ICD10:D47.9|Orphanet:3261|MESH:D056735|MedDRA:10069521|UMLS:C1328840 owl:Class MONDO:0002211 biolink:NamedThing B cell deficiency A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient. tmpak2llvmy_mondo_relaxed.owl immunoglobulin heavy chain deletion|deficiency of humoral immunity|B-cell deficiency|immunoglobulin heavy chain deficiency|B cell (antibody) deficiencies ICD9:279.03|NCIT:C4799|DOID:2115 See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18 owl:Class MONDO:0004805 biolink:NamedThing leukocyte disease A disease involving leukocytes. tmpak2llvmy_mondo_relaxed.owl disease or disorder of leukocyte|disorder of leukocyte|disease of leukocyte|leukocyte disease or disorder|leukocyte disease|white blood cell disorder|disorders, leukocyte|disorder, leukocyte|leukocyte disorder ICD10:D72.9|DOID:9500|UMLS:C0023510|SCTID:54097007|ICD9:288.9|MESH:D007960|ICD9:288 owl:Class MONDO:0007477 biolink:NamedThing 3-M syndrome 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. tmpak2llvmy_mondo_relaxed.owl dwarfism with tall vertebrae|three M syndrome|three M syndrome 1|three-M slender-boned nanism|3M syndrome|3-M syndrome|Le Merrer syndrome|dolichospondylic dysplasia|Miller-McKusick-Malvaux syndrome|Yakut short stature syndrome|3M1|3-MSBN|gloomy face syndrome|Dolichospondylic dysplasia|gloomy face syndrome Yakut short stature syndrome, included MESH:C535314|Orphanet:2616|ICD9:756.59|GARD:0005667|OMIMPS:273750|SCTID:702342007|DOID:0060241|ICD10:Q87.1 owl:Class MONDO:0019699 biolink:NamedThing slender bone dysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:93440 owl:Class MONDO:0011045 biolink:NamedThing MMEP syndrome A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. tmpak2llvmy_mondo_relaxed.owl syndromic microphthalmia type 8|microphthalmia, syndromic 8|Viljoen Smart syndrome|microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism|microphthalmia syndromic 8|Viljoen-Smart syndrome|MCOPS8|microcephaly microphthalmia ectrodactyly of lower limbs and prognathism|MMEP|microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome OMIM:601349|Orphanet:3434|ICD10:Q87.8|SCTID:715533002|MESH:C537686|UMLS:C1832440|UMLS:C4275099|GARD:0003693 owl:Class CHEBI:38418 biolink:NamedThing 1,3-thiazoles tmpak2llvmy_mondo_relaxed.owl 1,3-thiazoles owl:Class CHEBI:48901 biolink:NamedThing thiazoles An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom. tmpak2llvmy_mondo_relaxed.owl thiazole owl:Class MONDO:0000417 biolink:NamedThing early onset absence epilepsy A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. tmpak2llvmy_mondo_relaxed.owl DOID:0050708 owl:Class MONDO:0000414 biolink:NamedThing childhood electroclinical syndrome A electroclinical syndrome that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric electroclinical syndrome|electroclinical syndrome of childhood DOID:0050704 owl:Class MONDO:0011872 biolink:NamedThing Griscelli syndrome type 2 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood. tmpak2llvmy_mondo_relaxed.owl Griscelli-PruniC)ras syndrome type 2|hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|Griscelli disease type 2|PAID syndrome|Griscelli syndrome type 2|Griscelli-Pruniéras syndrome type 2|Griscelli-Pruni��ras syndrome type 2|partial albinism and immunodeficiency syndrome|Paid syndrome|GS2|Griscelli syndrome with hemophagocytic syndrome|Griscelli syndrome, type 2 OMIM:607624|UMLS:C1868679|MESH:C537302|DOID:0060833|Orphanet:79477|ICD10:E70.3|NCIT:C111814|GARD:0004483 https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2 owl:Class MONDO:0015134 biolink:NamedThing constitutional neutropenia A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl Kostmann disease|genetic infantile agranulocytosis|infantile genetic agranulocytosis|Kostmann neutropenia|Kostmann syndrome|congenital neutropenia NCIT:C61242|Orphanet:101987|ICD10:D70 owl:Class UBERON:0002169 biolink:NamedThing alveolar sac The small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters tmpak2llvmy_mondo_relaxed.owl air sac|pulmonary alveolar sac|sacculus alveolaris owl:Class UBERON:0000115 biolink:NamedThing lung epithelium The epithelial layer of the lung. tmpak2llvmy_mondo_relaxed.owl pulmonary epithelium|epithelial tissue of lung|epithelium of lung|lung epithelial tissue owl:Class MONDO:0010337 biolink:NamedThing X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 60, formerly|mental retardation, X-linked 60|mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance|mental retardation x-linked 60 (formerly)|OPHN1 deficiency|intellectual disability, X-linked 60|Oligophrenin-1 syndrome|OPHN1 XLMR, X-linked intellectual disability|OPHN1- related XLID|intellectual disability, X-linked 60, formerly|X-linked intellectual Deficit with cerebellar Hypoplasia|OPHN1 syndrome|intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance|intellectual disability x-linked with cerebellar hypoplasia and distinctive facial appearance|intellectual disability x-linked 60 (formerly)|MRX60 (formerly)|mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance|X-linked intellectual disability-cerebellar hypoplasia syndrome|OPHN1 XLMR MESH:C537456|ICD10:Q04.3|Orphanet:137831|GARD:0009947|SCTID:719136005|OMIM:300486|GARD:0013093|DOID:0080311 https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance owl:Class GO:0032222 biolink:NamedThing regulation of synaptic transmission, cholinergic Any process that modulates the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050804 biolink:NamedThing modulation of chemical synaptic transmission Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. tmpak2llvmy_mondo_relaxed.owl regulation of synaptic transmission|modulation of synaptic transmission|regulation of chemical synaptic transmission owl:Class HP:0003552 biolink:NamedThing Muscle stiffness A condition in which muscles cannot be moved quickly without accompanying pain or spasm. tmpak2llvmy_mondo_relaxed.owl UMLS:C0221170|SNOMEDCT_US:16046003 HP:0009014 human_phenotype owl:Class HP:0011804 biolink:NamedThing Abnormal muscle physiology A functional abnormality of a skeletal muscle. tmpak2llvmy_mondo_relaxed.owl Issue with muscle function|Abnormality of muscle physiology UMLS:C4023182 peter 2012-04-25T02:00:15Z human_phenotype owl:Class MONDO:0005753 biolink:NamedThing epiglottitis Inflammation of the epiglottis. tmpak2llvmy_mondo_relaxed.owl mucosa of epiglottis inflammation|acute epiglottitis and supraglottitis|supraglottitis|inflammation of mucosa of epiglottis MESH:D004826|NCIT:C116007|ICD10:J05.10|EFO:0007261|SCTID:80384002|ICD10:J05.1|DOID:9398|UMLS:C0014541|ICD9:464.3 owl:Class MONDO:0020592 biolink:NamedThing disease of pharynx A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma. tmpak2llvmy_mondo_relaxed.owl chordate pharynx disease or disorder|disease of chordate pharynx|pharyngeal disease|disease or disorder of chordate pharynx|disorder of chordate pharynx|pharyngeal disorder|chordate pharynx disease GARD:0007266|SCTID:75860007|NCIT:C26850 owl:Class MONDO:0005794 biolink:NamedThing Herpesviridae infectious disease Virus diseases caused by the herpesviridae. tmpak2llvmy_mondo_relaxed.owl Herpesvirus infections|Herpesviridae infection|Herpesviridae caused disease or disorder|infection, Herpesviridae|Herpesvirus infection|Herpesviridae infections|infections, Herpesviridae|herpes infection|infection, Herpesvirus|Herpesviridae disease or disorder|infections, Herpesvirus|herpesvirus infection SCTID:23513009|EFO:0007309|MESH:D006566 owl:Class MONDO:0007399 biolink:NamedThing TWIST1-related craniosynostosis Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene. tmpak2llvmy_mondo_relaxed.owl craniosynostosis type 1|CRS1|craniostenosis|TWIST1-related craniosynostosis|CRS|craniosynostosis 1 UMLS:CN029978|OMIM:123100|SCTID:57219006 https://github.com/monarch-initiative/mondo/issues/2659 owl:Class MONDO:0018971 biolink:NamedThing isolated oxycephaly Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull. tmpak2llvmy_mondo_relaxed.owl acrocephaly|hypsicephaly|pyrgocephaly|turricephaly|hypsocephaly Orphanet:63440|SCTID:48069004|ICD10:Q75.0 owl:Class MONDO:0005250 biolink:NamedThing placental villitis Inflammatory process that involves the chorionic villi (villitis) of the placenta. tmpak2llvmy_mondo_relaxed.owl UMLS:C1270169|SCTID:388604008|EFO:0003110 owl:Class MONDO:0021166 biolink:NamedThing inflammatory disease A disease involving a pathogenic inflammatory response in the anatomical structure. tmpak2llvmy_mondo_relaxed.owl inflammation of anatomical structure|inflammatory disorder|inflammatory disease|anatomical structure inflammation ICD9:799.89|NCIT:C93210|UMLS:C1290884|SCTID:128139000 owl:Class MONDO:0008803 biolink:NamedThing Antley-Bixler syndrome Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. tmpak2llvmy_mondo_relaxed.owl osteodysgenesis, multisynostotic, with fractures|Antley Bixler syndrome|trapezoidocephaly synostosis syndrome|osteodysgenesis, multisynostotic with fractures|trapezoidocephaly-synostosis syndrome|multisynostotic osteodysgenesis with long bone fractures GARD:0005826|DOID:0050462|ICD10:Q87.0|Orphanet:83|SCTID:62964007 https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome owl:Class MONDO:0043007 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic MCA/variable MR|genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Orphanet:330197 owl:Class MONDO:0100413 biolink:NamedThing acute myeloid leukemia, biallelic CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.) tmpak2llvmy_mondo_relaxed.owl AML, CEBP Biallelic Gene Mutation|AML, biCEBPA|AML, CEBPA Biallelic Gene Mutation|AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, C/EBPalpha Biallelic Gene Mutation|AML, CEBPA Biallelic Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, C/EBP-Alpha Biallelic Gene Mutation|AML, biallelic CEBPA gene mutation owl:Class MONDO:0018874 biolink:NamedThing acute myeloid leukemia Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections. tmpak2llvmy_mondo_relaxed.owl acute non lymphoblastic leukemia|acute myelocytic leukemia|acute myeloid leukemia|myeloid leukemia, acute|leukemia, myelocytic, acute|hematopoeitic - acute Myleogenous leukemia (AML)|acute nonlymphocytic leukemia|AML|leukemia, acute myeloid|acute granulocytic leukemia|leukemia, acute myeloid, susceptibility to|acute myelogenous leukemia|acute myeloblastic leukemia|leukemia, acute myelogenous|acute myeloid leukemia (AML)|ANLL|acute myelogenous leukemias|AML - acute myeloid leukemia|acute Nonlymphocytic leukemia DOID:9119|SCTID:91861009|MedDRA:10000880|ICD9:205.0|ICD10:C92.0|ICD10:C92.00|KEGG:05221|MESH:D015470|GARD:0012757|ICD9:205.00|ICDO:9861/3|OMIM:601626|NCIT:C3171|EFO:0000222|Orphanet:519|ONCOTREE:AML|UMLS:C0023467|GARD:0000537 https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia|https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia owl:Class GO:1901137 biolink:NamedThing carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. tmpak2llvmy_mondo_relaxed.owl carbohydrate derivative formation|carbohydrate derivative synthesis|carbohydrate derivative biosynthesis|carbohydrate derivative anabolism owl:Class GO:1901576 biolink:NamedThing organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. tmpak2llvmy_mondo_relaxed.owl organic molecular entity synthesis|organic substance anabolism|organic molecular entity anabolism|organic molecular entity formation|organic molecular entity biosynthetic process|organic molecular entity biosynthesis|organic substance biosynthesis|organic substance synthesis|organic substance formation owl:Class MONDO:0100253 biolink:NamedThing Roberts-SC phocomelia syndrome A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. tmpak2llvmy_mondo_relaxed.owl pseudothalidomide syndrome|phocomelia-pseudothalidomide syndrome|long bone deficiencies associated with cleft lip-palate|Roberts-SC phocomelia syndrome|RBS NCIT:C4681|OMIM:268300 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class GO:0002889 biolink:NamedThing regulation of immunoglobulin mediated immune response Any process that modulates the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21061 biolink:NamedThing SERAC1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007631 biolink:NamedThing feeding behavior Behavior associated with the intake of food. tmpak2llvmy_mondo_relaxed.owl feeding on blood of other organism|feeding from phloem of other organism|behavioural response to food|feeding from xylem of other organism|feeding from tissue of other organism|taking of blood meal|feeding on or from other organism|hematophagy|injection of substance into other organism during feeding on blood of other organism|behavioral response to food|feeding from vascular tissue of another organism|eating|feeding behaviour|feeding from plant phloem|feeding on plant sap owl:Class GO:0007610 biolink:NamedThing behavior The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. tmpak2llvmy_mondo_relaxed.owl behavioral response to stimulus|single-organism behavior|behavioural response to stimulus|behaviour owl:Class MONDO:0010548 biolink:NamedThing spinocerebellar ataxia, X-linked 2 tmpak2llvmy_mondo_relaxed.owl Scax2|cerebellar ataxia with extrapyramidal involvement, early-onset|spinocerebellar ataxia, X-linked 2|spinocerebellar ataxia, X-linked type 2|spinocerebellar ataxia X-linked type 2|cerebellar ataxia with extrapyramidal involvement early-onset OMIM:302600|MESH:C537314|GARD:0009978|UMLS:C1844885 owl:Class MONDO:0016612 biolink:NamedThing X-linked cerebellar ataxia X-linked form of cerebellar ataxia. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, X-linked|X-linked hereditary ataxia|hereditary ataxia, X-linked DOID:0050953|Orphanet:247765|ICD10:G11.1 MONDO:0000559 owl:Class MONDO:0008791 biolink:NamedThing isolated anencephaly/exencephaly Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. tmpak2llvmy_mondo_relaxed.owl ANPH|anencephaly|absence of a large part of the brain and the skull 2021-12-01 Orphanet:1048|ICD9:740.0|SCTID:89369001|OMIM:206500|ICD10:Q00.0|GARD:0005808 This will be obsoleted in the 2021-12-01 release. The term will be split into two terms: MONDO:8000007 anencephaly 1 and MONDO:0023893 anencephaly. owl:Class MONDO:0017059 biolink:NamedThing neural tube closure defect A disease that has its basis in the disruption of neural tube closure. tmpak2llvmy_mondo_relaxed.owl neural tube closure disease|disorder of neural tube closure Orphanet:268357 owl:Class UBERON:0034905 biolink:NamedThing gland lumen tmpak2llvmy_mondo_relaxed.owl lumen of gland owl:Class GO:0033047 biolink:NamedThing regulation of mitotic sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032689 biolink:NamedThing retinitis pigmentosa 85 tmpak2llvmy_mondo_relaxed.owl RETINITIS PIGMENTOSA 85|RP85 OMIM:618345 owl:Class MONDO:0009205 biolink:NamedThing faciocardiorenal syndrome Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. tmpak2llvmy_mondo_relaxed.owl Eastman-Bixler syndrome|Eastman Bixler syndrome|faciocardiorenal syndrome UMLS:C0795936|MESH:C536388|SCTID:723333000|GARD:0002230|Orphanet:1973|OMIM:227280|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome owl:Class MONDO:0019721 biolink:NamedThing syndromic renal or urinary tract malformation A renal or urinary tract malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with congenital anomaly of kidney and urinary tract|syndromic congenital anomaly of kidney and urinary tract|syndromic renal or urinary tract malformation UMLS:CN227683|Orphanet:93547 owl:Class MONDO:0018513 biolink:NamedThing squamous cell carcinoma of colon A squamous cell carcinoma that involves the colon. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of the colon|squamous cell carcinoma of colon|colonic squamous cell carcinoma|colonic epidermoid carcinoma|epidermoid carcinoma of colon|squamous cell colon carcinoma|colon squamous cell carcinoma|colon squamous cell cancer|colon epidermoid carcinoma|squamous cell carcinoma of the colon ICD10:C18.6|Orphanet:423994|NCIT:C5490|ICD10:C18.7|UMLS:CN237518|UMLS:C1333100|ICD10:C18.2|ICD10:C18.0|ICD10:C18.5|ICD10:C18.9|ICD10:C18.4|SCTID:766981007|DOID:5519|ICD10:C18.3|ICD10:C18.8 owl:Class MONDO:0006165 biolink:NamedThing colorectal squamous cell carcinoma A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. tmpak2llvmy_mondo_relaxed.owl colorectal squamous cell cancer|colorectal squamous cell carcinoma|colorectal (colon or rectal) squamous cell cancer|colorectum squamous cell carcinoma NCIT:C43588|UMLS:C1707442|EFO:1000198 owl:Class MONDO:0000603 biolink:NamedThing autoimmune disease of cardiovascular system A hypersensitivity reaction type II disease that involves the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl cardiovascular system autoimmune disease|cardiovascular system hypersensitivity reaction type II disease DOID:0060051 owl:Class MONDO:0004995 biolink:NamedThing cardiovascular disease A disease involving the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl cardiovascular disorder|disease or disorder of cardiovascular system|disease of subdivision of hemolymphoid system|circulatory system disease|disorder of cardiovascular system|cardiovascular system disease or disorder|cardiovascular disease (CVD)|disease of cardiovascular system|cardiovascular system disease|cardiovascular disease ICD9:423.8|ICD9:459.89|ICD9:429.89|SCTID:49601007|ICD9:429.7|ICD9:459.9|ICD9:429.81|ICD9:420-429.99|ICD9:424|ICD10:I00.I99|NCIT:C2931|ICD9:390-459.99|DOID:1287|ICD9:429|MESH:D002318|UMLS:C0007222|ICD9:429.8|ICD9:429.2|ICD9:423|EFO:0000319 owl:Class MONDO:0011049 biolink:NamedThing fine-Lubinsky syndrome Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. tmpak2llvmy_mondo_relaxed.owl brachycephaly, deafness, cataract and mental retardation|brachycephaly, deafness, cataract, microstomia, and mental retardation|brachycephaly-deafness-cataract-intellectual disability syndrome|brachycephaly, deafness, cataract, microstomia, and intellectual disability|fine-Lubinsky syndrome|brachycephaly, deafness, cataract and intellectual disability GARD:0000958|OMIM:601353|UMLS:C0795941|MESH:C537933|ICD10:Q87.8|Orphanet:1272|SCTID:720955004 https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome owl:Class MONDO:0015159 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome-intellectual disability tmpak2llvmy_mondo_relaxed.owl multiple congenital anomalies-intellectual disability with or without dysmorphism|MCA/MR|multiple congenital anomalies/dysmorphic syndrome-intellectual disability UMLS:CN228396|Orphanet:102283 owl:Class OBO:CHR_9606-chr2p13.2 biolink:NamedThing chr2p13.2 (Human) tmpak2llvmy_mondo_relaxed.owl 73300000 71300000 hg38 owl:Class GO:0030317 biolink:NamedThing flagellated sperm motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. tmpak2llvmy_mondo_relaxed.owl flagellated sperm movement|sperm movement|sperm motility|sperm flagellum movement involved in flagellated sperm motility|sperm flagellum movement|sperm flagellum movement involved in flagellated sperm movement owl:Class GO:0097722 biolink:NamedThing sperm motility Any process involved in the controlled movement of a sperm cell. tmpak2llvmy_mondo_relaxed.owl sperm movement owl:Class PATO:0001863 biolink:NamedThing chronic A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001309 biolink:NamedThing duration A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. tmpak2llvmy_mondo_relaxed.owl time|period owl:Class GO:0002831 biolink:NamedThing regulation of response to biotic stimulus Any process that modulates the frequency, rate, or extent of a response to biotic stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048583 biolink:NamedThing regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010892 biolink:NamedThing Abnormal circulating branched chain amino acid concentration Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023673 peter 2010-11-11T02:53:04Z human_phenotype owl:Class HP:0033107 biolink:NamedThing Abnormal circulating proteinogenic amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. tmpak2llvmy_mondo_relaxed.owl 2020-08-29 11:59:15+00:00 peter human_phenotype owl:Class HGNC:28727 biolink:NamedThing APOO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000367 biolink:NamedThing taeniasis A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea. tmpak2llvmy_mondo_relaxed.owl infections, Taenia|infection by taenia saginata|Taenia infection|Taenia saginata infectious disease|unarmed tapeworm infection|beef tapeworm infection|taenia saginata infection|infection by Taeniarhynchus saginatus DOID:0050596|MESH:D013622|SCTID:69163003|ICD10:B68.1|NCIT:C85180|ICD9:123.2|UMLS:C0152073|ICD10:B68|EFO:1001433 owl:Class MONDO:0004092 biolink:NamedThing thymic basaloid carcinoma A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases. tmpak2llvmy_mondo_relaxed.owl basaloid carcinoma of Thymus|Thymus basaloid carcinoma|thymus basaloid squamous cell carcinoma|basaloid carcinoma of the Thymus|thymic basaloid carcinoma DOID:7050|UMLS:C1332464|NCIT:C6456 owl:Class MONDO:0003486 biolink:NamedThing basaloid squamous cell carcinoma A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading. tmpak2llvmy_mondo_relaxed.owl basaloid squamous cell carcinoma|basaloid carcinoma (morphologic abnormality)|basaloid carcinoma|basaloid squamous cell carcinoma (morphologic abnormality) UMLS:C1266005|DOID:5522|NCIT:C54244|ICDO:8083/3 owl:Class MONDO:0021148 biolink:NamedThing female reproductive system neoplasm A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. tmpak2llvmy_mondo_relaxed.owl tumor of female reproductive system|gynecologic tumor|female reproductive organ neoplasm (disease)|tumor of the female reproductive system|female reproductive system tumor|female reproductive system neoplasm|female reproductive system neoplasm (disease)|neoplasm of the female reproductive system|female reproductive organ tumor|neoplasm of female reproductive system|gynecologic neoplasm|neoplasm of female reproductive organ EFO:1001331|MESH:D005833|UMLS:C0017416|NCIT:C3053 owl:Class MONDO:0002263 biolink:NamedThing female reproductive system disease A disease involving the female reproductive system. tmpak2llvmy_mondo_relaxed.owl female reproductive system disorder|gynecological disease|female reproductive system disease|disease of female reproductive system|disease of female genital system|female reproductive system disease or disorder|disease or disorder of female reproductive system|disorder of female genital tract|disorder of female reproductive system|disorder of female genital system|female reproductive disease MESH:D005831|NCIT:C27020|ICD9:629.9|DOID:229|SCTID:310789003 owl:Class MONDO:0004105 biolink:NamedThing childhood epithelioid sarcoma An epithelioid sarcoma occurring in childhood. tmpak2llvmy_mondo_relaxed.owl epithelioid sarcoma of childhood|childhood epithelioid sarcoma|pediatric epithelioid sarcoma|epithelioid sarcoma NCIT:C8095|DOID:7095|UMLS:C0279989 owl:Class MONDO:0002923 biolink:NamedThing uterine corpus endometrial stromal sarcoma A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma. tmpak2llvmy_mondo_relaxed.owl endometrioid stromal sarcoma of body of uterus|body of uterus endometrial stromal sarcoma|uterine corpus endometrial stromal tumor|uterine corpus ess|body of uterus endometrioid stromal sarcoma|uterine corpus endometrial stromal sarcoma DOID:4227|UMLS:C1519849|NCIT:C40219 owl:Class MONDO:0005210 biolink:NamedThing uterine corpus sarcoma A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of the body of uterus|sarcoma of the uterine body|uterus sarcoma|corpus uteri sarcoma|sarcoma of corpus uteri|sarcoma of uterus|uterine body sarcoma|sarcoma of uterine body|uterine sarcoma|body of uterus sarcoma|sarcoma of the uterine corpus|sarcoma of the corpus uteri|sarcoma of the uterus|sarcoma of body of uterus|uterine sarcoma/mesenchymal|sarcoma of uterine corpus MedDRA:10039497|NCIT:C6339|EFO:0002914|GARD:0009383|ICD10:C54.2|Orphanet:213620|ONCOTREE:USARC|DOID:5165|UMLS:C0338113|SCTID:254877001 MONDO:0021422 https://rarediseases.info.nih.gov/diseases/9383/uterine-sarcoma owl:Class HP:0011226 biolink:NamedThing Aplasia/Hypoplasia of the eyelid Absence or underdevelopment of the eyelid. tmpak2llvmy_mondo_relaxed.owl Failure of development of eyelid|Hypotrophic eyelid UMLS:C4023453 peter 2011-12-13T08:38:23Z human_phenotype owl:Class HP:0000492 biolink:NamedThing Abnormal eyelid morphology An abnormality of the eyelids. tmpak2llvmy_mondo_relaxed.owl Abnormality of the eyelid|Abnormality of the eyelids UMLS:C4021803 HP:0000285 human_phenotype owl:Class MONDO:0018206 biolink:NamedThing childhood-onset autosomal recessive myopathy with external ophthalmoplegia tmpak2llvmy_mondo_relaxed.owl ICD10:G71.2|Orphanet:363677 owl:Class MONDO:0020259 biolink:NamedThing myopathy with eye involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98689 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: myopathy MONDO_0005336 owl:Class CL:0007000 biolink:NamedThing preameloblast Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins. tmpak2llvmy_mondo_relaxed.owl unsure of neural crest contribution. In VSAO we have develops_from CL:0000008 haendel 2012-06-15T01:27:01Z cell owl:Class CL:0000055 biolink:NamedThing non-terminally differentiated cell A precursor cell with a limited number of potential fates. tmpak2llvmy_mondo_relaxed.owl blast cell BTO:0000125|FMA:84782 define using PATO mulit-potent or oligopotent? cell owl:Class GO:1902531 biolink:NamedThing regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. tmpak2llvmy_mondo_relaxed.owl regulation of signal transmission via intracellular cascade|regulation of intracellular signaling chain|regulation of intracellular protein kinase cascade|regulation of signal transduction via intracellular signaling cascade|regulation of intracellular signaling cascade|regulation of intracellular signaling pathway|regulation of intracellular signal transduction pathway owl:Class GO:0009966 biolink:NamedThing regulation of signal transduction Any process that modulates the frequency, rate or extent of signal transduction. tmpak2llvmy_mondo_relaxed.owl regulation of signaling pathway|regulation of signalling pathway owl:Class GO:1903781 biolink:NamedThing positive regulation of cardiac conduction Any process that activates or increases the frequency, rate or extent of cardiac conduction. tmpak2llvmy_mondo_relaxed.owl upregulation of cardiac conduction|up-regulation of cardiac conduction|up regulation of cardiac conduction|activation of cardiac conduction owl:Class GO:1903779 biolink:NamedThing regulation of cardiac conduction Any process that modulates the frequency, rate or extent of cardiac conduction. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26190 biolink:NamedThing MTMR14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021480 biolink:NamedThing benign neoplasm of soft palate A benign neoplasm that involves the soft palate. tmpak2llvmy_mondo_relaxed.owl benign soft palate tumor|benign tumor of the soft palate|benign neoplasm of the soft palate|benign soft palate neoplasm|benign tumor of soft palate|soft palate benign neoplasm UMLS:C0345557|ICD9:210.4|NCIT:C4404|SCTID:92386006 owl:Class MONDO:0005286 biolink:NamedThing palatal neoplasm A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula. tmpak2llvmy_mondo_relaxed.owl secondary palate tumor|neoplasm of secondary palate|neoplasm of palate|tumor of the palate|neoplasm of the palate|tumor of palate|tumor of secondary palate|palate neoplasm|secondary palate neoplasm (disease)|secondary palate neoplasm|palate tumor EFO:0003849|UMLS:C0030215|NCIT:C4402|MESH:D010157|SCTID:126805009 owl:Class MONDO:0007845 biolink:NamedThing Kaposi sarcoma, susceptibility to tmpak2llvmy_mondo_relaxed.owl multicentric Castleman disease, susceptibility to|Kaposi sarcoma, susceptibility to|susceptibility to Kaposi sarcoma|multiple idiopathic pigmented hemangiosarcoma, susceptibility to OMIM:148000 owl:Class MONDO:0015979 biolink:NamedThing hereditary predisposition to infections tmpak2llvmy_mondo_relaxed.owl genetic susceptibility to infections due to particular pathogens ICD10:D84.8|Orphanet:183710 Editor note: todo logical definition owl:Class UBERON:0001913 biolink:NamedThing milk An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation. tmpak2llvmy_mondo_relaxed.owl mammary gland milk|mammal milk owl:Class UBERON:0006539 biolink:NamedThing mammary gland fluid/secretion A substance that is secreted by a mammary gland. The substance may differ depending on phase, with colostrum produced during pregancy/early lactation, and milk produced afterwards. tmpak2llvmy_mondo_relaxed.owl mammary gland secretion|lactiferous gland fluid|lactiferous gland secretion|secretion of mammary gland|mammary gland fluid|mammary gland secreted fluid owl:Class GO:0044147 biolink:NamedThing negative regulation of formation of structure involved in a symbiotic process Any process that stops, prevents, or reduces the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpak2llvmy_mondo_relaxed.owl negative regulation of development of symbiont involved in interaction with host|negative regulation of development of symbiont during interaction with host owl:Class GO:0048519 biolink:NamedThing negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpak2llvmy_mondo_relaxed.owl down regulation of biological process|downregulation of biological process|inhibition of biological process|negative regulation of physiological process|down-regulation of biological process owl:Class HP:0100037 biolink:NamedThing Abnormality of the scalp hair An abnormality of the hair of head. tmpak2llvmy_mondo_relaxed.owl Abnormality of the scalp hair UMLS:C4022384 doelkens 2010-06-22T05:29:31Z human_phenotype owl:Class HP:0001595 biolink:NamedThing Abnormal hair morphology An abnormality of the hair. tmpak2llvmy_mondo_relaxed.owl Abnormality of the hair shaft|Abnormality of the hair|Hair abnormality UMLS:C2677869|UMLS:C0157733 human_phenotype owl:Class MONDO:0009012 biolink:NamedThing multiple pterygium-malignant hyperthermia syndrome Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. tmpak2llvmy_mondo_relaxed.owl malignant hyperthermia - arthrogryposis - torticollis|contractures, congenital, torticollis, and malignant hyperthermia|malignant hyperthermia-arthrogryposis-torticollis syndrome|froster-Iskenius-Waterson-Hall syndrome|malignant hyperthermia arthrogryposis torticollis|froster-Iskenius-Waterson syndrome GARD:0003361|ICD10:Q87.8|Orphanet:2215|OMIM:217150|MESH:C565679|UMLS:C1857576 https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis owl:Class MONDO:0015168 biolink:NamedThing arthrogryposis multiplex congenita Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. tmpak2llvmy_mondo_relaxed.owl Arthromyodysplasia congenita|Rossi syndrome|arthrogryposis multiplex congenita|congenital arthromyodysplasia|Guerin-Stern syndrome|myodystrophia fetalis deformans|myodysplasia|fibrous ankylosis of multiple joints|AMC|congenital amyoplasia|rocher-Sheldon syndrome|Otto syndrome|multiple congenital arthrogryposis|amyoplasia congenita|Guérin-Stern syndrome GARD:0000777|ICD10:Q74.3|Orphanet:1037|OMIMPS:617468|MedDRA:10051643 owl:Class MONDO:0009265 biolink:NamedThing Gaucher disease type I Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. tmpak2llvmy_mondo_relaxed.owl acid Beta-glucosidase deficiency|non-cerebral juvenile Gaucher disease|Gaucher disease type 1|GD I|Gaucher disease, type 1|Gaucher disease, type I|Gaucher disease type I|Gaucher disease, noncerebral juvenile|Gba deficiency|Gd 1|Gaucher's disease type I GARD:0002441|DOID:0110957|ICD10:E75.2|Orphanet:77259|OMIM:230800 owl:Class MONDO:0018374 biolink:NamedThing secondary avascular necrosis tmpak2llvmy_mondo_relaxed.owl secondary AVN ICD10:M87.2|ICD10:M87.1|Orphanet:399169|ICD10:M87.3 owl:Class UBERON:0036656 biolink:NamedThing wall of third ventricle tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036661 biolink:NamedThing wall of ventricular system of brain tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014615 biolink:NamedThing trichothiodystrophy 2, photosensitive tmpak2llvmy_mondo_relaxed.owl trichothiodystrophy 2, photosensitive|TTD2 OMIM:616390|UMLS:C4225344 owl:Class MONDO:0002470 biolink:NamedThing photosensitive trichothiodystrophy A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway tmpak2llvmy_mondo_relaxed.owl Tay syndrome|sulfur-deficient brittle hair syndrome|trichothiodystrophy with congenital ichthyosis|trichothiodystrophy with congenital ichtyosis|IBIDS syndrome|Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature|trichothiodystrophy DOID:2960|GARD:0002944|UMLS:CN205101|Orphanet:453 owl:Class MONDO:0013005 biolink:NamedThing EAST syndrome SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). tmpak2llvmy_mondo_relaxed.owl seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance|seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance|sesame syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance|seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance|epilepsy, ataxia, sensorineural deafness, and tubulopathy|EAST syndrome|epilepsy, ataxia, sensorineural deafness and tubulopathy|SESAMES SCTID:721207002|GARD:0010514|UMLS:C2748572|OMIM:612780|Orphanet:199343|MESH:C557674|DOID:0060484 owl:Class MONDO:0015962 biolink:NamedThing inherited renal tubular disease tmpak2llvmy_mondo_relaxed.owl genetic renal tubular disease UMLS:CN200561|Orphanet:183592 owl:Class MONDO:0024392 biolink:NamedThing anaerobic balanitis tmpak2llvmy_mondo_relaxed.owl anaerobic balanitis UMLS:C0403764|SCTID:236746000 owl:Class MONDO:0006672 biolink:NamedThing balanitis An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge. tmpak2llvmy_mondo_relaxed.owl inflammation of glans penis|balanitis|glans penis inflammation MESH:D001446|DOID:13033|EFO:1000833|SCTID:44882003|MedDRA:10004073|UMLS:C0004690|NCIT:C26705|ICD10:N48.1 owl:Class GO:0090358 biolink:NamedThing positive regulation of tryptophan metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpak2llvmy_mondo_relaxed.owl positive regulation of tryptophan metabolism owl:Class GO:0090357 biolink:NamedThing regulation of tryptophan metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpak2llvmy_mondo_relaxed.owl regulation of tryptophan metabolism owl:Class MONDO:0004685 biolink:NamedThing Waldeyer's ring cancer A malignant neoplasm involving the tonsillar ring. tmpak2llvmy_mondo_relaxed.owl malignant tumor of Waldeyer's ring|Waldeyer ring cancer|tonsillar ring cancer|malignant neoplasm of tonsillar ring|malignant neoplasm of Waldeyer's ring|cancer of tonsillar ring|malignant tonsillar ring neoplasm ICD9:149.1|DOID:8937|UMLS:C0153406|ICD10:C14.2|SCTID:187716008 owl:Class MONDO:0000621 biolink:NamedThing immune system cancer A malignant neoplasm involving the immune system tmpak2llvmy_mondo_relaxed.owl immune system cancer|malignant neoplasm of immune system|malignant immune system neoplasm|cancer of immune system DOID:0060083 owl:Class MONDO:0009460 biolink:NamedThing indolylacroyl glycinuria with intellectual disability tmpak2llvmy_mondo_relaxed.owl indolylacroyl glycinuria with mental retardation|indolylacroyl glycinuria with intellectual disability MESH:C565466|OMIM:243050|UMLS:C1855738 owl:Class MONDO:0010478 biolink:NamedThing SLC35A2-CDG SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type IIm|epileptic encephalopathy, early infantile, 22|CDG IIm|EIEE22|CDG2M|CDG syndrome type IIm|CDG-IIm|congenital disorder of glycosylation, type IIm|congenital disorder of glycosylation type 2m|SLC35A2-CDG|epileptic encephalopathy, early infantile, 22; EIEE22 DOID:0070265|ICD10:E77.8|UMLS:C3806688|GARD:0012403|Orphanet:356961|OMIM:300896 https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg owl:Class NCBITaxon:119060 biolink:NamedThing Burkholderiaceae tmpak2llvmy_mondo_relaxed.owl Burkholderia group PMID:16403855|GC_ID:11 NCBITaxon:119063 ncbi_taxonomy owl:Class NCBITaxon:80840 biolink:NamedThing Burkholderiales tmpak2llvmy_mondo_relaxed.owl Burkholderia/Oxalobacter/Ralstonia group PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class CL:1001005 biolink:NamedThing glomerular capillary endothelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001037 cell owl:Class CL:1000746 biolink:NamedThing glomerular cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001036 cell owl:Class FOODON:03430130 biolink:NamedThing food (liquid) A state of matter between a solid and a gas, in which a substance has the capacity to flow and conforms to the shape of the container. Liquids range from water to honey, corresponding to a range in viscosity (or apparent viscosity) from 1 to 500 centipoise (viscosity is a measure of a liquid's resistance to flow). Products that are pourable but have a higher viscosity are *SEMILIQUID*. tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F5105 SIREN DB annotation: * has quality 'liquid' (http://purl.obolibrary.org/obo/FOODON_03430130) owl:Class FOODON:00002454 biolink:NamedThing food product by quality A class which contains food product categories qualified by a quality such as granularity or temperature, which is useful for tasks like food inspection where little prior knowledge of how the food came to be is available. Some terms like "food (frozen)" are both a quality descriptor and the output of a process. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000451 biolink:NamedThing dendritic cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). tmpak2llvmy_mondo_relaxed.owl veiled cell|interdigitating cell FMA:83036|CALOHA:TS-0194|BTO:0002042 cell owl:Class CL:0000145 biolink:NamedThing professional antigen presenting cell A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. tmpak2llvmy_mondo_relaxed.owl APC Note change of name; nearly all somatic cells can present antigens to T cells via MHC Class I complexes leading to effector responses, but professional antigen presenting cells constitutively express MHC Class II as well as costimulatory molecules, and thus can initiate immune responses via T cells. cell owl:Class HP:0000240 biolink:NamedThing Abnormality of skull size Any abnormality of the size of the skull. tmpak2llvmy_mondo_relaxed.owl Abnormality of skull size|Abnormality of cranium size|Abnormality of head size UMLS:C4025874 human_phenotype owl:Class HP:0000929 biolink:NamedThing Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. tmpak2llvmy_mondo_relaxed.owl Abnormality of the skull bones|Abnormality of the skull UMLS:C0235942 human_phenotype owl:Class MONDO:0015360 biolink:NamedThing autosomal dominant hereditary axonal motor and sensory neuropathy tmpak2llvmy_mondo_relaxed.owl ICD10:G60.0|UMLS:CN228927|Orphanet:140456 owl:Class MONDO:0018775 biolink:NamedThing axonal hereditary motor and sensory neuropathy tmpak2llvmy_mondo_relaxed.owl axonal HMSN Orphanet:476109 owl:Class MONDO:0004512 biolink:NamedThing meningeal melanomatosis A meningeal melanoma with secondary diffuse meningeal spread. (WHO) tmpak2llvmy_mondo_relaxed.owl leptomeningeal melanomatosis|meningeal melanomatosis (morphologic abnormality)|melanomatosis of meningeal cluster|meningeal melanomatosis|meningeal cluster melanomatosis DOID:8243|ICDO:8728/3|NCIT:C6891|UMLS:C1266114 owl:Class MONDO:0016747 biolink:NamedThing primary melanoma of the central nervous system A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl Central nervous system melanoma|melanoma of central nervous system|melanoma of the Central nervous system|primary meningeal melanoma|melanoma of CNS|central nervous system melanoma (disease)|melanoma (disease) of central nervous system|malignant melanoma of meninges|central nervous system melanoma|melanoma of the CNS|primary CNS melanoma|CNS melanoma|primary melanoma of the CNS UMLS:CN201994|ONCOTREE:PCNSM|GARD:0012016|Orphanet:252050|NCIT:C5505|UMLS:C0349626 https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system owl:Class MONDO:0012701 biolink:NamedThing cataract 12 multiple types A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. tmpak2llvmy_mondo_relaxed.owl cataract 12, multiple types|CTRCT12 MESH:C566909|ICD10:Q12.0|DOID:0110239|OMIM:611597 owl:Class MONDO:0005129 biolink:NamedThing cataract Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) tmpak2llvmy_mondo_relaxed.owl opacity of the lens|cataract|cataract (disease) cataract (disease) ICD10:H26|HP:0000518|DOID:83|ICD9:366.44|ICD9:366.9|MESH:D002386|OMIMPS:116200|ICD9:366.8|SCTID:193570009|EFO:0001059|ICD9:366|NCIT:C26713 owl:Class UBERON:0007750 biolink:NamedThing metatarsophalangeal joint of pedal digit 1 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 1. tmpak2llvmy_mondo_relaxed.owl metatarsophalangeal joint of first toe|metatarsophalangeal joint of great toe|metatarsophalangeal joint of pedal digit I|first metatarsophalangeal joint|metatarsophalangeal joint of first digit of foot|metatarsophalangeal joint of big toe owl:Class UBERON:0003696 biolink:NamedThing metatarsophalangeal joint The metatarsophalangeal articulations are the joints between the metatarsal bones of the foot and the proximal bones of the toes . They are condyloid joints meaning an elliptical or rounded surface (of the metatarsal bones) come close to the shallow cavities (of the proximal phalanges). The ligaments are the plantar and two collateral. tmpak2llvmy_mondo_relaxed.owl metatarsal joint|metatarsophalangeal|metatarsal-phalangeal joint|articulationes metatarsophalangeae|metatarsophalangeal articulation|metatarsalphalangeal joint owl:Class MONDO:0100363 biolink:NamedThing genital herpes simplex type 2 infectious disease Any herpes simplex type 2 infectious disease that involves the genitals. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0005770 biolink:NamedThing genital herpes Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. tmpak2llvmy_mondo_relaxed.owl herpes genitalia|herpes genitalis|genital herpes simplex|venereal herpes|virus-genital herpes SCTID:33839006|ICD9:054.10|ICD9:054.1|DOID:8704|MESH:D006558|ICD9:054.19|NCIT:C14364|UMLS:C0019342|EFO:0007282 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class UBERON:0009553 biolink:NamedThing distal segment of pedal digit A segment of the pedal digit containing the distal phalanx. Note this class represents a digit segment and thus includes tissues in addition to bone. tmpak2llvmy_mondo_relaxed.owl toe distal segment|toe digit tip|tip of toe|distalmost part of toe|hindlimb digit tip|P3 segment of pedal digit owl:Class UBERON:0009551 biolink:NamedThing distal segment of digit A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). tmpak2llvmy_mondo_relaxed.owl digit tip|tip of digit|distal digit segment owl:Class MONDO:0002177 biolink:NamedThing hyperinsulinism Abnormally high levels of insulin in the blood. tmpak2llvmy_mondo_relaxed.owl hyperinsulinism|hyperinsulinism (disease)|hyperinsulinemia hyperinsulinism (disease) ICD9:251.1|HP:0000842|DOID:2018|ICD10:E16.1|UMLS:C0020459|SCTID:83469008|MESH:D006946 owl:Class MONDO:0001933 biolink:NamedThing endocrine pancreas disease A disease involving the endocrine pancreas. tmpak2llvmy_mondo_relaxed.owl disorder of endocrine pancreas|disease or disorder of endocrine pancreas|disorder of pancreatic islets|disease of endocrine pancreas|endocrine pancreas disease or disorder|endocrine pancreas disorder|endocrine pancreas disease|disorder of islets of langerhans NCIT:C27067|UMLS:C0271633|DOID:1428|ICD9:251|SCTID:17346000|ICD10:E16 owl:Class MONDO:0008380 biolink:NamedThing retinoblastoma A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. tmpak2llvmy_mondo_relaxed.owl RB|eye cancer, retinoblastoma|retinoblastoma|RB - retinoblastoma|RB1|retinoblastoma, malignant|Rb MedDRA:10038916|NCIT:C7541|MESH:D012175|DOID:768|SCTID:370967009|Orphanet:790|GARD:0007563|ICDO:9510/3|ICD10:C69.2|UMLS:C0035335|ONCOTREE:RBL https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 owl:Class MONDO:0004338 biolink:NamedThing retinal cell cancer tmpak2llvmy_mondo_relaxed.owl malignant retinal cell neoplasm|malignant neoplasm of retinal cell|retinal cell cancer|cancer of retinal cell DOID:771 owl:Class MONDO:0013218 biolink:NamedThing exudative vitreoretinopathy 5 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene. tmpak2llvmy_mondo_relaxed.owl TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy caused by mutation in TSPAN12|exudative vitreoretinopathy type 5|EVR5|exudative vitreoretinopathy 5 MESH:C567648|UMLS:C2750079|OMIM:613310|DOID:0111408 owl:Class MONDO:0019516 biolink:NamedThing exudative vitreoretinopathy Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. tmpak2llvmy_mondo_relaxed.owl exudative vitreoretinopathy, familial|Criswick-Schepens syndrome|familial exudative vitreoretinopathy|FEVR SCTID:232063007|MESH:C580083|GARD:0001613|OMIMPS:133780|ICD10:H35.0|Orphanet:891|DOID:0050535|ICD9:362.10|ICD10:H35.00|UMLS:C4072980 owl:Class MONDO:0019540 biolink:NamedThing diffuse alveolar hemorrhage tmpak2llvmy_mondo_relaxed.owl diffuse alveolar hemorrhage|diffuse alveolar hemorrhage (disease) diffuse alveolar hemorrhage (disease) HP:0025420|Orphanet:90060|UMLS:CN206369|ICD10:J98.4 owl:Class MONDO:0005087 biolink:NamedThing respiratory system disease A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. tmpak2llvmy_mondo_relaxed.owl respiratory system disease|disease or disorder of respiratory system|respiratory system disease or disorder|respiratory system disorder|respiratory disease|respiratory disorder|disease of respiratory system|disorder of respiratory system ICD9:519.3|SCTID:50043002|ICD9:508.8|ICD10:J98|ICD9:516.8|ICD9:508.9|ICD10:J96-J99|ICD9:508.1|ICD9:519.1|ICD9:519.8|ICD9:500-508.99|ICD9:517.8|ICD9:503|ICD9:519.9|ICD9:516|EFO:0000684|ICD9:V47.2|ICD9:V12.60|ICD9:519|ICD9:516.9|NCIT:C26871|ICD9:510-519.99|MESH:D012140|ICD9:460-519.99|ICD9:517|DOID:1579|ICD9:508 owl:Class MONDO:0002036 biolink:NamedThing penile disease A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. tmpak2llvmy_mondo_relaxed.owl penile disease|penis disease|disease of penis|penile disorder|disorder of penis|disease or disorder of penis|penis disease or disorder SCTID:33958003|ICD10:N48.89|ICD9:607.89|ICD9:607.9|ICD10:N48.8|ICD9:607.8|NCIT:C26846|UMLS:C0030846|MESH:D010409|DOID:1529 owl:Class MONDO:0016818 biolink:NamedThing Mikati-Najjar-Sahli syndrome Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). tmpak2llvmy_mondo_relaxed.owl microcephaly-hypergonadotropic hypogonadism-short stature syndrome Orphanet:2558|ICD10:E22.8|UMLS:CN202088 owl:Class MONDO:0002423 biolink:NamedThing rectosigmoid junction neoplasm A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpak2llvmy_mondo_relaxed.owl tumor of rectosigmoid junction|rectosigmoid neoplasm|rectosigmoid junction tumor|neoplasm of rectosigmoid junction|neoplasm of the rectosigmoid junction|tumor of the rectosigmoid junction|rectosigmoid tumor|rectosigmoid junction neoplasm (disease) NCIT:C4877|DOID:2780|SCTID:126848003|UMLS:C0345873 owl:Class MONDO:0005070 biolink:NamedThing neoplasm A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. tmpak2llvmy_mondo_relaxed.owl other neoplasm|neoplasm|disease of cellular proliferation|cell process disease|tumor|tumor disease|neoplasia|neoplastic disease|neoplasm (disease)|neoplastic growth neoplasm (disease) UMLS:CN236628|DOID:14566|EFO:0000616|ICD10:C00.D48|NCIT:C3262|ICD9:239.9|MESH:D009369|ONCOTREE:OTHER|ICD9:140-239.99|HP:0002664|ICD9:239.8|SCTID:55342001 owl:Class GO:0043011 biolink:NamedThing myeloid dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002573 biolink:NamedThing myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. tmpak2llvmy_mondo_relaxed.owl myeloid leucocyte differentiation owl:Class CHEBI:76759 biolink:NamedThing EC 3.* (hydrolase) inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). tmpak2llvmy_mondo_relaxed.owl hydrolase inhibitors|EC 3.* inhibitors|EC 3.*.*.* inhibitor|EC 3.* (hydrolase) inhibitors|EC 3.*.*.* inhibitors|EC 3.* inhibitor|hydrolase (EC 3.*) inhibitor|hydrolase inhibitor|hydrolase (EC 3.*) inhibitors owl:Class CHEBI:23924 biolink:NamedThing enzyme inhibitor A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. tmpak2llvmy_mondo_relaxed.owl inhibiteurs enzymatiques|enzyme inhibitor|inhibidores enzimaticos|inhibidor enzimatico|inhibiteur enzymatique|enzyme inhibitors owl:Class MONDO:0007435 biolink:NamedThing dentatorubral-pallidoluysian atrophy Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. tmpak2llvmy_mondo_relaxed.owl haw River syndrome|Naito-Oyanagi disease|dentatorubral pallidoluysian atrophy|dentatorubral-pallidoluysian atrophy|NOD|myoclonic epilepsy with choreoathetosis|Dentatorubropallidoluysian atrophy|DRPLA|Naito Oyanagi disease|ataxia, chorea, seizures, and dementia SCTID:68116008|ICD10:G11.8|GARD:0005643|NCIT:C122653|Orphanet:101|UMLS:C0751781|DOID:0060162|ICD9:333.99|OMIM:125370 https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy owl:Class MONDO:0019794 biolink:NamedThing autosomal dominant cerebellar ataxia type IV tmpak2llvmy_mondo_relaxed.owl ADCAIV|ADCA4|autosomal dominant cerebellar ataxia type 4|autosomal dominant cerebellar ataxia type IV UMLS:CN229225|Orphanet:94149|ICD10:G11.8 owl:Class MONDO:0009419 biolink:NamedThing Woodhouse-Sakati syndrome Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. tmpak2llvmy_mondo_relaxed.owl hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities|woodhouse Sakati syndrome|hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|woodhouse-Sakati syndrome|Woodhouse-Sakati syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia|diabetes-hypogonadism-deafness-intellectual disability syndrome|hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome OMIM:241080|Orphanet:3464|GARD:0005592|MESH:C536742|ICD9:759.89|SCTID:237616002|UMLS:C0342286|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome owl:Class MONDO:0044807 biolink:NamedThing inherited dystonia An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial dystonia|rare genetic dystonic disorder|hereditary dystonic disorder|rare genetic dystonia UMLS:CN227322|NCIT:C35527|Orphanet:391799|OMIMPS:128100 owl:Class MONDO:0018428 biolink:NamedThing 9q31.1q31.3 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl Del(9)(q31.1q31.3)|monosomy 9q31.1q31.3 ICD10:Q93.5|Orphanet:401923|UMLS:CN226140 owl:Class MONDO:0016908 biolink:NamedThing partial monosomy of the long arm of chromosome 9 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 9q|partial monosomy of the long arm of chromosome type 9|partial deletion of the long arm of chromosome 9|partial deletion of chromosome 9q Orphanet:262074|ICD10:Q93.5 owl:Class MONDO:0009923 biolink:NamedThing 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. tmpak2llvmy_mondo_relaxed.owl 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency|pseudovaginal perineoscrotal hypospadias|micropenis|46,XY DSD due to 5-alpha-reductase 2 deficiency|46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency|5 Alpha steroid reductase 2 deficiency|PPSH|steroid 5-alpha-reductase deficiency|Male pseudohermaphroditism due to 5-Alpha-reductase deficiency|familial incomplete Male pseudohermaphroditism, type 2|Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency|5-alpha reductase deficiency MESH:C535830|MedDRA:10000029|NCIT:C98699|Orphanet:753|GARD:0005680|OMIM:264600|SCTID:57514000|ICD10:Q56.1 owl:Class MONDO:0020041 biolink:NamedThing 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98086|UMLS:CN227739 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class MONDO:0010108 biolink:NamedThing testicular germ cell tumor A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. tmpak2llvmy_mondo_relaxed.owl TGCT|teratoma, testicular|testicular germ cell neoplasm|testis germ cell tumor|testicular germ cell cancer|testicular germ cell neoplasms|nonseminomatous germ cell tumors|embryonal cell carcinoma|germ cell tumor of the testis|germ cell tumor of testis|germ cell neoplasm of the testis|endodermal sinus tumor|testicular germ cell tumor|spermatocytic seminoma|seminoma|germ cell neoplasm of testis|Male germ cell tumor GARD:0013047|MESH:C563236|NCIT:C8591|ICD9:239.5|DOID:5557|OMIM:273300|Orphanet:363504|EFO:1000566|ICD10:C62.1|SCTID:713577007|UMLS:C1336708 owl:Class MONDO:0005040 biolink:NamedThing germ cell tumor A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. tmpak2llvmy_mondo_relaxed.owl germ cell neoplasm|germ cells tumors|tumor of germ cell|tumor of the germ cell|neoplasm of the germ cell|germ cell tumour|neoplasm of germ cell|germ cell tumor|germ cell cancer NCIT:C3708|UMLS:C0205851|DOID:2994|EFO:0000514|GARD:0013022 owl:Class MONDO:0100018 biolink:NamedThing adult onset pityriasis rubra pilaris A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life. tmpak2llvmy_mondo_relaxed.owl adult onset PRP GARD:0007401 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470 owl:Class MONDO:0100017 biolink:NamedThing pityriasis rubra pilaris A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP). tmpak2llvmy_mondo_relaxed.owl NCIT:C85014|ICD9:696.4|ICD10:L44.0|UMLS:C0032027|GARD:0007401|SCTID:3755001|DOID:9212|MESH:D010916 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470|https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris owl:Class UBERON:0009889 biolink:NamedThing secondary heart field A specific region of the lateral mesoderm that will form the majority of the mesodermal component of the right ventricle, arterial pole (outflow tract) and venous pole (inflow tract). tmpak2llvmy_mondo_relaxed.owl second heart field|anterior/second heart field|SHF|anterior heart field owl:Class UBERON:0002050 biolink:NamedThing embryonic structure Anatomical structure that is part of an embryo. tmpak2llvmy_mondo_relaxed.owl developing embryonic structure|developing structure|embryonic anatomical structure|embryonic structures|embryonale Struktur owl:Class MONDO:0005772 biolink:NamedThing geotrichosis Infection due to the fungus Geotrichum. tmpak2llvmy_mondo_relaxed.owl UMLS:C0017455|ICD9:117.9|ICD10:B48.3|EFO:0007284|DOID:2832|MESH:D005847|SCTID:13969006 owl:Class MONDO:0002312 biolink:NamedThing opportunistic mycosis A mycosis that arises from infection in an immunologically compromised host. tmpak2llvmy_mondo_relaxed.owl opportunistic systemic mycoses|opportunistic mycoses ICD9:117.9|ICD9:118|UMLS:C0029119|DOID:2473|SCTID:78999002 owl:Class MONDO:0004248 biolink:NamedThing pediatric infratentorial ependymoma An ependymoma that arises from the infratentorial region of the brain and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood infratentorial ependymoma|pediatric infratentorial ependymoma|infratentorial ependymoma DOID:7501|UMLS:C0278599|NCIT:C9041 owl:Class MONDO:0002915 biolink:NamedThing childhood infratentorial neoplasm A neoplasm that affects the infratentorial region of the brain and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric infratentorial neoplasm|childhood infratentorial neoplasm|pediatric infratentorial tumor|childhood infratentorial tumors|infratentorial neoplasm of childhood|childhood infratentorial tumor|childhood infratentorial neoplasms NCIT:C5802|UMLS:C1332973|DOID:4207 owl:Class HGNC:14881 biolink:NamedThing ZEB2 tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0000248 biolink:NamedThing sequence_length_alteration A kind of kind of sequence alteration where the copies of a region present varies across a population. tmpak2llvmy_mondo_relaxed.owl sequence length alteration owl:Class SO:0001059 biolink:NamedThing sequence_alteration A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. tmpak2llvmy_mondo_relaxed.owl partially_characterised_change_in_DNA_sequence|uncharacterised_change_in_nucleotide_sequence|INSDC_note:sequence_alteration|INSDC_feature:misc_feature|sequence alteration|INSDC_feature:variation|partially characterised change in DNA sequence|sequence variation owl:Class HGNC:2954 biolink:NamedThing DNAI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008509 biolink:NamedThing distal symphalangism Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet. tmpak2llvmy_mondo_relaxed.owl distal symphalangism|distal symphalangism (disease)|Sym2|symphalangism, distal distal symphalangism (disease) HP:0100263|Orphanet:3248|ICD10:Q70.9|MESH:C566099|OMIM:185700|UMLS:C1861401 owl:Class MONDO:0017429 biolink:NamedThing joint formation defects tmpak2llvmy_mondo_relaxed.owl Orphanet:294949 owl:Class MONDO:0017163 biolink:NamedThing hemolytic disease due to fetomaternal alloimmunization tmpak2llvmy_mondo_relaxed.owl hemolytic disease of the fetus and newborn 2022-03-01 ICD10:P55.1|ICD10:P55.8|ICD10:P55.9|Orphanet:275938|ICD10:P55.0|UMLS:CN202585 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0003664 biolink:NamedThing hemolytic anemia Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. tmpak2llvmy_mondo_relaxed.owl anemia, hemolytic|hemolytic anemia|anemia hemolytic ICD10:D55-D59|DOID:583|SCTID:61261009|ICD10:D55.D59|NCIT:C34376|EFO:0005558|MESH:D000743 owl:Class HsapDv:0000112 biolink:NamedThing 18-year-old human stage Adolescent stage that refers to an adolescent who is over 18 and under 19 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019007 biolink:NamedThing vaginal atresia tmpak2llvmy_mondo_relaxed.owl MedDRA:10046879|ICD10:Q52.0|Orphanet:65681|HP:0000148 owl:Class MONDO:0015932 biolink:NamedThing non-syndromic urogenital tract malformation of female A non-syndromic urogenital tract malformation that involves the female organism. tmpak2llvmy_mondo_relaxed.owl female organism non-syndromic urogenital tract malformation|nonsyndromic urogenital tract malformation of female|isolated urogenital tract malformation of female|non-syndromic urogenital tract malformation of female organism Orphanet:182117 owl:Class MONDO:0011659 biolink:NamedThing heterotaxy, visceral, 3, autosomal tmpak2llvmy_mondo_relaxed.owl HTX3|heterotaxy, visceral, 3, autosomal OMIM:606325|MESH:C565237|UMLS:C1853444 owl:Class MONDO:0018677 biolink:NamedThing visceral heterotaxy A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. tmpak2llvmy_mondo_relaxed.owl situs ambiguus|visceral heterotaxy|heterotaxy syndrome|heterotaxia syndrome|lateralization defect|heterotaxy, visceral|heterotaxia NCIT:C117273|DOID:0050545|OMIMPS:306955|MedDRA:10067265|Orphanet:450|UMLS:C3178805|EFO:0009081|ICD10:Q89.3 owl:Class MONDO:0100392 biolink:NamedThing acute myeloid leukemia, t(11;17) Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.) tmpak2llvmy_mondo_relaxed.owl AML, t(11;17) owl:Class UBERON:0010551 biolink:NamedThing pedal digit 5 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 5 mesenchyme. tmpak2llvmy_mondo_relaxed.owl foot digit 5 metatarsal pre-cartilage condensation|pedal digit V metatarsal pre-cartilage condensation|hind limb digit 5 metatarsal pre-cartilage condensation|toe 5 metatarsal pre-cartilage condensation owl:Class UBERON:0010687 biolink:NamedThing pedal digit metatarsal pre-cartilage condensation tmpak2llvmy_mondo_relaxed.owl hind limb digit metatarsal pre-cartilage condensation|metatarsal bone pre-cartilage condensation|metatarsal pre-cartilage condensation|metatarsus pre-cartilage condensation|foot digit metatarsal pre-cartilage condensation owl:Class PATO:0001739 biolink:NamedThing radiation quality A quality that inheres in an bearer by virtue of how that bearer interacts with radiation. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001018 biolink:NamedThing physical quality A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. tmpak2llvmy_mondo_relaxed.owl relational physical quality owl:Class MONDO:0002184 biolink:NamedThing drug-induced hepatitis Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite. tmpak2llvmy_mondo_relaxed.owl drug-induced chronic hepatitis SCTID:235889003|DOID:2044|EFO:1000905 owl:Class MONDO:0005359 biolink:NamedThing drug-induced liver injury A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment. tmpak2llvmy_mondo_relaxed.owl drug-induced disorder of liver|drug induced hepatotoxicity MESH:D056486|EFO:0004228|SCTID:197352008 owl:Class GO:0046189 biolink:NamedThing phenol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. tmpak2llvmy_mondo_relaxed.owl phenol-containing compound biosynthesis|phenol-containing compound formation|phenol-containing compound anabolism|phenol-containing compound synthesis owl:Class GO:0019438 biolink:NamedThing aromatic compound biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. tmpak2llvmy_mondo_relaxed.owl aromatic compound formation|aromatic compound anabolism|aromatic hydrocarbon biosynthetic process|aromatic hydrocarbon biosynthesis|aromatic compound synthesis|aromatic compound biosynthesis owl:Class MONDO:0013021 biolink:NamedThing sterile multifocal osteomyelitis with periostitis and pustulosis An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. tmpak2llvmy_mondo_relaxed.owl DIRA|deficiency of interleukin-1 receptor antagonist|Interleukin-1 receptor antagonist deficiency|OMPP|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|osteomyelitis, STERILE multifocal, with periostitis and pustulosis|deficiency of the Interleukin-1 receptor antagonist|Interleukin 1 receptor antagonist deficiency Orphanet:210115|OMIM:612852|UMLS:C2748507|NCIT:C119056|MESH:C557815|GARD:0010516 owl:Class MONDO:0017954 biolink:NamedThing pyogenic autoinflammatory syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN204100|Orphanet:324927 owl:Class MONDO:0018913 biolink:NamedThing malakoplakia Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body. tmpak2llvmy_mondo_relaxed.owl malacoplakia NCIT:C84833|SCTID:716766007|EFO:1001807|GARD:0006960|Orphanet:556|MESH:D008287 https://rarediseases.info.nih.gov/diseases/6960/malakoplakia owl:Class MONDO:0004377 biolink:NamedThing pancreatic non-functioning delta cell tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome. tmpak2llvmy_mondo_relaxed.owl non-functional pancreatic Delta cell neuroendocrine tumor|non-functioning pancreatic Delta cell neoplasm|nonfunctional Pancreatic Delta cell Neuroendocrine tumor|non-functioning pancreatic Delta cell tumor|non-functional pancreatic Delta cell NET NCIT:C28333|UMLS:C1335311|DOID:7840 owl:Class MONDO:0002994 biolink:NamedThing pancreatic delta cell neuroendocrine tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning). tmpak2llvmy_mondo_relaxed.owl pancreatic Delta cell neuroendocrine tumor|pancreatic Delta cell tumor|pancreatic Delta cell neoplasm|pancreatic Delta cell NET|pancreatic delta cell neoplasm NCIT:C28396|DOID:4433|UMLS:C1335301 owl:Class CHEBI:46195 biolink:NamedThing paracetamol A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group. tmpak2llvmy_mondo_relaxed.owl N-(4-hydroxyphenyl)acetamide|p-acetaminophenol|Acetaminophen|4'-hydroxyacetanilide|p-Acetylaminophenol|Paracetamol|4-acetamidophenol|paracetamol|Acenol|acetaminophene|N-acetyl-p-aminophenol|acetaminofen|4-(Acetylamino)phenol|Tylenol|p-hydroxyphenolacetamide|Acetaminofen|APAP|paracetamolum|p-hydroxyacetanilide|p-acetamidophenol|Panadol owl:Class CHEBI:22160 biolink:NamedThing acetamides Compounds with the general formula RNHC(=O)CH3. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002086 biolink:NamedThing clear cell acanthoma An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm. tmpak2llvmy_mondo_relaxed.owl clear cell acanthoma (morphologic abnormality)|Degos acanthoma|pale (clear cell) acanthoma SCTID:254670002|UMLS:C0333992|NCIT:C97041|DOID:172 owl:Class MONDO:0002093 biolink:NamedThing acanthoma A benign skin neoplasm composed of epithelial cells. tmpak2llvmy_mondo_relaxed.owl acanthoma (disease)|acanthoma acanthoma (disease) UMLS:C0846967|NCIT:C7419|MESH:D049309|HP:0025432|GARD:0008604|DOID:174 owl:Class UBERON:0006635 biolink:NamedThing anterior abdominal wall The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus). tmpak2llvmy_mondo_relaxed.owl ventral abdominal wall owl:Class UBERON:0000475 biolink:NamedThing organism subdivision Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. tmpak2llvmy_mondo_relaxed.owl body region|body part|cardinal body part|anatomic region owl:Class GO:0010822 biolink:NamedThing positive regulation of mitochondrion organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpak2llvmy_mondo_relaxed.owl positive regulation of mitochondrion organisation owl:Class MONDO:0010526 biolink:NamedThing Fabry disease Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. tmpak2llvmy_mondo_relaxed.owl Fabry's disease|Anderson-Fabry disease|Fabry disease|Fabry disease, Cardiac variant|angiokeratoma corporis diffusum|deficiency of melibiase|ceramide trihexosidase deficiency|Alpha-galactosidase A deficiency|Fd|angiokeratoma, diffuse|hereditary dystopic lipidosis|alpha galactosidase deficiency|Gla deficiency|diffuse angiokeratoma ICD10:E75.2|UMLS:C0002986|NCIT:C84701|DOID:14499|ICD10:E75.21|GARD:0006400|OMIM:301500|MedDRA:10016016|MESH:D000795|Orphanet:324|SCTID:16652001 owl:Class MONDO:0020279 biolink:NamedThing metabolic disease with corneal opacity tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98711|UMLS:CN207082 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class HGNC:2889 biolink:NamedThing DISC2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002347 biolink:NamedThing thoracic vertebra A thoracic vertebra endochondral element that is composed primarily of a bone tissue. tmpak2llvmy_mondo_relaxed.owl thorax vertebra|vertebra thoracica|dorsal vertebra|vertebra of thorax owl:Class UBERON:0004247 biolink:NamedThing bone of dorsum A bone that is part of the dorsal region of an animal. tmpak2llvmy_mondo_relaxed.owl back bone|dorsal region bone|bone of back owl:Class HGNC:18971 biolink:NamedThing AP1S3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012425 biolink:NamedThing striated border microvillus layer A microvillus layer that is striated and found in the intestine. tmpak2llvmy_mondo_relaxed.owl striated border owl:Class HGNC:25994 biolink:NamedThing NSUN2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004118 biolink:NamedThing vasculature of iris A vasculature that is part of a iris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl iris blood vessels|iris vasculature|vascular network of iris|iris vascular network owl:Class UBERON:0002203 biolink:NamedThing vasculature of eye Vasculature that is part of the eye region. tmpak2llvmy_mondo_relaxed.owl optic vasculature|eye vascular network|ocular vasculature|ocular blood vessel|vascular network of eye|eye vasculature owl:Class MONDO:0012267 biolink:NamedThing holoprosencephaly 8 A holoprosencephaly that has material basis in variation in the chromosome region 14q13. tmpak2llvmy_mondo_relaxed.owl HPE8|holoprosencephaly 8|holoprosencephaly type 8 UMLS:C1836254|DOID:0110879|OMIM:609408|MESH:C563723 owl:Class MONDO:0016296 biolink:NamedThing holoprosencephaly Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. tmpak2llvmy_mondo_relaxed.owl holoprosencephaly sequence|HPE GARD:0006665|Orphanet:2162|SCTID:30915001|OMIMPS:236100|MESH:D016142|ICD10:Q04.2|UMLS:C0079541|MedDRA:10056304|NCIT:C74988|DOID:4621 https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly owl:Class MONDO:0013227 biolink:NamedThing congenital plasminogen activator inhibitor type 1 deficiency Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. tmpak2llvmy_mondo_relaxed.owl plasminogen activator INHIBITOR-1 deficiency|plasminogen activator inhibitor type 1 deficiency|hyperfibrinolysis due to Pai1 deficiency|congenital PAI-1 deficiency|congenital plasminogen activator inhibitor type 1 deficiency NCIT:C133884|GARD:0004381|Orphanet:465|ICD10:D68.8|SCTID:717407006|MESH:C567640|OMIM:613329 owl:Class MONDO:0002242 biolink:NamedThing coagulation protein disease Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. tmpak2llvmy_mondo_relaxed.owl coagulation factor deficiency syndrome|coagulation factor deficiency NCIT:C27215|DOID:2212|SCTID:86075001|UMLS:C0600503|MESH:D020147 owl:Class PATO:0001501 biolink:NamedThing immature A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development. tmpak2llvmy_mondo_relaxed.owl underdeveloped owl:Class PATO:0000261 biolink:NamedThing maturity A quality of a single physical entity which is held by a bearer when the latter exhibits a state of growth, differentiation, or development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013753 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2P Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene. tmpak2llvmy_mondo_relaxed.owl Charcot Marie Tooth disease type 2G|Charcot-Marie-Tooth disease, axonal, type 2G|CMT2G|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|autosomal dominant Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth disease caused by mutation in LRSAM1|Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth neuropathy type 2P|Charcot-Marie-Tooth neuropathy, type 2G|Charcot-Marie-Toothe disease, axonal, type 2P|Charcot-Marie-Tooth disease, axonal, type 2G, formerly|Charcot-Marie-Tooth disease, axonal, type 2P|Charcot-Marie-Tooth disease type 2P|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth neuropathy, type 2P|CMT2P|CMT 2G|LRSAM1 Charcot-Marie-Tooth disease UMLS:C3280797|GARD:0012435|GARD:0009195|Orphanet:300319|OMIM:614436|UMLS:C4304674|OMIM:608591|DOID:0110169|Orphanet:99941|UMLS:C1837805|ICD10:G60.0|SCTID:719511005 https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p owl:Class MONDO:0018993 biolink:NamedThing Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. tmpak2llvmy_mondo_relaxed.owl autosomal dominant axonal Charcot-Marie-Tooth disease|Charcot-Marie-Tooth type 2|CMT2|hereditary motor and sensory neuropathy Guadalajara neuronal type|autosomal dominant Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy Okinawa type|hereditary motor and sensory neuropathy type 2 SCTID:715665006|DOID:0050539|ICD10:G60.0|GARD:0012431|ICD9:356.0|Orphanet:64746 owl:Class MONDO:0003402 biolink:NamedThing testicular yolk sac tumor A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation. tmpak2llvmy_mondo_relaxed.owl yolk Sac neoplasm of testis|endodermal sinus tumor of the testis|endodermal sinus neoplasm of testis|endodermal sinus tumor of testis|testicular yolk sac tumor|testis yolk sac tumor|testicular yolk Sac neoplasm|testicular endodermal sinus neoplasm|yolk Sac neoplasm of the testis|testicular endodermal sinus tumor|Orchidoblastoma|yolk Sac tumor of testis|endodermal sinus neoplasm of the testis|yolk sac tumor|endodermal-sinus tumor|yolk Sac tumor of the testis NCIT:C8000|EFO:1000574|GARD:0000348|ONCOTREE:TYST|DOID:5344|UMLS:C0279708 owl:Class MONDO:0005744 biolink:NamedThing yolk sac tumor A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum. tmpak2llvmy_mondo_relaxed.owl infantile embryonal carcinoma|yolk Sac tumor|yolk Sac tumor site unspecified|yolk Sac tumour site unspecified|hepatoid yolk sac tumour|endodermal sinus tumor|yolk SAC tumor, malignant|yolk sac tumor|yolk Sac neoplasm|endodermal sinus neoplasm SCTID:404081005|Orphanet:876|ONCOTREE:BYST|ICD10:C62.9|ICD10:C56|ICDO:9071/3|UMLS:C0014145|MedDRA:10048251|EFO:0007252|NCIT:C3011|DOID:1911 owl:Class GO:0050714 biolink:NamedThing positive regulation of protein secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. tmpak2llvmy_mondo_relaxed.owl up regulation of protein secretion|up-regulation of protein secretion|upregulation of protein secretion|stimulation of protein secretion|activation of protein secretion owl:Class GO:1903532 biolink:NamedThing positive regulation of secretion by cell Any process that activates or increases the frequency, rate or extent of secretion by cell. tmpak2llvmy_mondo_relaxed.owl up regulation of secretion by cell|activation of secretion by cell|up-regulation of secretion by cell|up regulation of cellular secretion|upregulation of cellular secretion|upregulation of secretion by cell|up-regulation of cellular secretion|activation of cellular secretion|positive regulation of cellular secretion owl:Class GO:0030155 biolink:NamedThing regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. tmpak2llvmy_mondo_relaxed.owl cell adhesion receptor regulator activity owl:Class MONDO:0004554 biolink:NamedThing childhood kidney angiomyolipoma An angiomyolipoma occurring in childhood. tmpak2llvmy_mondo_relaxed.owl pediatric kidney angiomyolipoma|pediatric renal angiomyolipoma|childhood renal angiomyolipoma|kidney angiomyolipoma of childhood DOID:8410|UMLS:C1333000|NCIT:C6565 owl:Class MONDO:0002730 biolink:NamedThing childhood kidney neoplasm A kidney neoplasm that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood renal tumor|pediatric kidney neoplasm|pediatric renal tumor|childhood kidney tumor|pediatric renal neoplasm|childhood renal neoplasm|pediatric kidney tumor|kidney neoplasm|kidney neoplasm of childhood|childhood kidney neoplasm UMLS:C1333003|DOID:3675|NCIT:C6563 owl:Class HP:0000606 biolink:NamedThing Abnormality of the periorbital region An abnormality of the region situated around the orbit of the eye. tmpak2llvmy_mondo_relaxed.owl Malformation of the periorbital region|Anomaly of the periorbital region|Abnormality of the region around the eye|Deformity of the periorbital region|Abnormality of the region around the eye socket UMLS:C4025837 human_phenotype owl:Class HP:0000271 biolink:NamedThing Abnormality of the face An abnormality of the face. tmpak2llvmy_mondo_relaxed.owl Abnormality of the visage|Anomaly of the face|Facial anomaly|Facial abnormality|Abnormal face|Disorder of face|Anomaly of face|Abnormality of the physiognomy|Abnormality of the face|Abnormality of the countenance|Disorder of the face SNOMEDCT_US:118930001|UMLS:C0266617|UMLS:C1290857|SNOMEDCT_US:398302004|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004|UMLS:C4025871 human_phenotype owl:Class MONDO:0004351 biolink:NamedThing intraocular lymphoma A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters. tmpak2llvmy_mondo_relaxed.owl primary intraocular non-Hodgkin's lymphoma|primary intraocular lymphoma|intraocular lymphoma|PIOL DOID:775|SCTID:420788006|MESH:D064090|ICD10:C85,7|Orphanet:279904|ICD9:200.50|NCIT:C9184 MONDO:0017206 owl:Class MONDO:0004034 biolink:NamedThing eye lymphoma A lymphoma that involves the eye. tmpak2llvmy_mondo_relaxed.owl eyeball of camera-type eye lymphoma|eye lymphoma|primary eye lymphoma|lymphoma of eyeball of camera-type eye DOID:6903|UMLS:C1333519|NCIT:C35690 owl:Class MONDO:0021348 biolink:NamedThing neoplasm of testis A neoplasm (disease) that involves the testis. tmpak2llvmy_mondo_relaxed.owl testicular tumor|neoplasm of the testis|testis neoplasm (disease)|testis tumor|tumor of the testis|neoplasm of testis|testicular neoplasm|tumor of testis|testis neoplasm EFO:0004281|NCIT:C3404|ICD9:239.5|SCTID:126900000|ONCOTREE:TESTIS owl:Class MONDO:0002329 biolink:NamedThing testicular disease A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. tmpak2llvmy_mondo_relaxed.owl disease or disorder of testis|disorder of testis|testicular disorder|disease of testis|testicular disease|testis disorder|testis disease|testis disease or disorder DOID:2519|SCTID:64910008|NCIT:C26890|ICD9:608.89|UMLS:C0039584|MESH:D013733 owl:Class GO:1903060 biolink:NamedThing negative regulation of protein lipidation Any process that stops, prevents or reduces the frequency, rate or extent of protein lipidation. tmpak2llvmy_mondo_relaxed.owl down regulation of protein lipidation|down regulation of protein amino acid lipidation|down-regulation of protein amino acid lipidation|inhibition of protein lipidation|down-regulation of lipid:protein modification|inhibition of protein amino acid lipidation|inhibition of lipid:protein modification|negative regulation of protein amino acid lipidation|downregulation of protein amino acid lipidation|negative regulation of lipid:protein modification|downregulation of protein lipidation|down-regulation of protein lipidation|down regulation of lipid:protein modification|downregulation of lipid:protein modification owl:Class GO:1903059 biolink:NamedThing regulation of protein lipidation Any process that modulates the frequency, rate or extent of protein lipidation. tmpak2llvmy_mondo_relaxed.owl regulation of protein amino acid lipidation|regulation of lipid:protein modification owl:Class MONDO:0009740 biolink:NamedThing neurofaciodigitorenal syndrome Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. tmpak2llvmy_mondo_relaxed.owl Nfdr syndrome|Freire-Maia Pinheiro Opitz syndrome|neurofaciodigitorenal syndrome|Freire Maia-Pinheiro-Opitz syndrome ICD10:Q87.8|UMLS:C0796088|GARD:0003964|OMIM:256690|MESH:C537388|SCTID:725908007|Orphanet:2673 https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome owl:Class MONDO:0017234 biolink:NamedThing inherited prion disease An instance of prion disease that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial prion disease|hereditary prion disease ICD10:A81.8|UMLS:CN202725|Orphanet:280400 owl:Class MONDO:0024237 biolink:NamedThing inherited neurodegenerative disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. tmpak2llvmy_mondo_relaxed.owl hereditary neurodegenerative disorder|genetic neurodegenerative disease|hereditary neurodegenerative disease Orphanet:183500|NCIT:C97073|UMLS:C3273225|UMLS:CN200549|MESH:D020271 owl:Class MONDO:0002806 biolink:NamedThing bronchogenic carcinoma A lung carcinoma arising from the bronchial epithelium. tmpak2llvmy_mondo_relaxed.owl carcinoma of bronchus|bronchogenic lung carcinoma|carcinoma, bronchial, malignant|bronchogenic carcinoma|bronchial carcinoma|BC - bronchogenic carcinoma|bronchus carcinoma|bronchogenic lung cancer|bronchiogenic carcinoma ICD9:162.9|EFO:1001942|SCTID:254622008|CSP:2017-6052|NCIT:C35875|DOID:3904|UMLS:C0007121|MESH:D002283 owl:Class MONDO:0014171 biolink:NamedThing complex cortical dysplasia with other brain malformations 4 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene. tmpak2llvmy_mondo_relaxed.owl complex cortical dysplasia with other brain malformations type 4|CDCBM4|complex cortical dysplasia with other brain malformations caused by mutation in TUBG1|cortical dysplasia, complex, with other brain malformations 4|cortical dysplasia, Complex, with Other brain malformations type 4|TUBG1 complex cortical dysplasia with other brain malformations OMIM:615412|UMLS:C3809420|DOID:0090138 owl:Class MONDO:0000904 biolink:NamedThing complex cortical dysplasia with other brain malformations tmpak2llvmy_mondo_relaxed.owl cortical dysplasia, complex, with other brain malformations|complex cortical dysplasia with other brain malformations|CDCBM UMLS:CN228165|DOID:0090131|OMIMPS:614039 owl:Class MONDO:0010495 biolink:NamedThing trichothiodystrophy 5, nonphotosensitive Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene. tmpak2llvmy_mondo_relaxed.owl trichothiodystrophy 5, nonphotosensitive|TTD5|RNF113A nonphotosensitive trichothiodystrophy|nonphotosensitive trichothiodystrophy caused by mutation in RNF113A UMLS:C4225420|OMIM:300953 owl:Class MONDO:0018053 biolink:NamedThing trichothiodystrophy Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). tmpak2llvmy_mondo_relaxed.owl trichothiodystrophy syndrome OMIMPS:601675|ICD10:L67.8|Orphanet:33364|UMLS:C1955934|NCIT:C4924|SCTID:723551003|GARD:0012109|MedDRA:10044628 owl:Class GO:0016068 biolink:NamedThing type I hypersensitivity An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines. tmpak2llvmy_mondo_relaxed.owl immediate hypersensitivity response owl:Class GO:0016064 biolink:NamedThing immunoglobulin mediated immune response An immune response mediated by immunoglobulins, whether cell-bound or in solution. tmpak2llvmy_mondo_relaxed.owl antibody-mediated immune response owl:Class MONDO:0014176 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). tmpak2llvmy_mondo_relaxed.owl IHPRF syndrome|hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia-speech impairment-severe cognitive delay syndrome|IHPRF|infantile hypotonia-psychomotor retardation-characteristic facies syndrome Orphanet:371364|OMIMPS:615419|UMLS:CN204877|ICD10:Q87.8 owl:Class MONDO:0004071 biolink:NamedThing childhood cerebral astrocytoma An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. tmpak2llvmy_mondo_relaxed.owl telencephalon juvenile astrocytoma|childhood astrocytoma of cerebrum|telencephalon childhood astrocytic tumor|pediatric astrocytoma of cerebrum|pediatric cerebral astrocytoma|cerebral astrocytoma|childhood astrocytoma of the cerebrum|pediatric astrocytoma of the cerebrum|childhood astrocytic tumor of telencephalon|cerebral astrocytoma, childhood NCIT:C4347|DOID:7007|GARD:0009302|UMLS:C0338070 https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood owl:Class MONDO:0011372 biolink:NamedThing microcephaly with simplified gyral pattern tmpak2llvmy_mondo_relaxed.owl microcephaly with simplified gyral pattern OMIM:603802|UMLS:C1863516|MESH:C566332 owl:Class HP:0001943 biolink:NamedThing Hypoglycemia A decreased concentration of glucose in the blood. tmpak2llvmy_mondo_relaxed.owl Hypoglycaemia|Low blood sugar MSH:D007003|UMLS:C0020615|SNOMEDCT_US:271327008|SNOMEDCT_US:237630007|SNOMEDCT_US:302866003 HP:0003356 human_phenotype owl:Class HP:0011015 biolink:NamedThing Abnormal blood glucose concentration An abnormality of the concentration of glucose in the blood. tmpak2llvmy_mondo_relaxed.owl Abnormality of blood glucose concentration UMLS:C4023597 peter 2011-02-21T10:41:13Z human_phenotype owl:Class GO:0010906 biolink:NamedThing regulation of glucose metabolic process Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. tmpak2llvmy_mondo_relaxed.owl regulation of glucose metabolism owl:Class GO:0010675 biolink:NamedThing regulation of cellular carbohydrate metabolic process Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013700 biolink:NamedThing pancreatic triacylglycerol lipase deficiency An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase. tmpak2llvmy_mondo_relaxed.owl lipase, congenital absence of pancreatic|lipase and colipase, congenital absence of pancreatic|colipase, congenital absence of pancreatic|pancreatic triglyceride lipase deficiency|pancreatic lipase deficiency|lipase and colipase, deficiency of|pancreatic colipase deficiency|PL deficiency|PNLIPD OMIM:614338|ICD10:K90.3|Orphanet:309031|UMLS:C0268240|SCTID:78960005|ICD9:277.89|NCIT:C129030 owl:Class MONDO:0017709 biolink:NamedThing disorder of lipid absorption and transport tmpak2llvmy_mondo_relaxed.owl UMLS:CN227181|Orphanet:309028 owl:Class MONDO:0021360 biolink:NamedThing tumor of parathyroid gland A neoplasm (disease) that involves the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl neoplasm of the parathyroid gland|neoplasm of parathyroid|tumor of parathyroid gland|tumor of parathyroid|tumor of the parathyroid gland|parathyroid gland tumor|parathyroid neoplasm|tumor of the parathyroid|neoplasm of parathyroid gland|neoplasm of the parathyroid|parathyroid tumor|parathyroid gland neoplasm|parathyroid gland neoplasm (disease) NCIT:C3313|ICD9:239.7|SCTID:127020005 owl:Class MONDO:0008387 biolink:NamedThing ring dermoid of cornea Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. tmpak2llvmy_mondo_relaxed.owl bilateral, annular limbal dermoids with corneal and conjunctival extension|RDC|Ring dermoid syndrome|RING dermoid of cornea|ring dermoid of cornea OMIM:180550|DOID:0111548|GARD:0009696|Orphanet:91481|MESH:C535684|SCTID:723499000|ICD10:D31.1|UMLS:C1867155 https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea owl:Class UBERON:0002682 biolink:NamedThing abducens nucleus Nucleus located beneath the floor of the 4th ventricle in the pontine tegmentum, containing motor neurons innervating the lateral rectus muscle of the eye (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533) tmpak2llvmy_mondo_relaxed.owl nucleus nervi abducentis|abducens motor nuclei|abducens nerve nucleus|sixth cranial nerve nucleus|abducens motor nucleus|nucleus abducens|abducens VI nucleus|motor nucleus VI|abducens nucleus proper|nucleus of abducens nerve|nVI|abducent nucleus|nucleus of abducens nerve (VI) owl:Class UBERON:0009662 biolink:NamedThing hindbrain nucleus Nucleus located within the hindbrain. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010753 biolink:NamedThing cardiac valvular dysplasia, X-linked tmpak2llvmy_mondo_relaxed.owl cardiac valvular dysplasia, X-linked|valvular heart disease, congenital|congenital valvular dysplasia|XMVD|CVD1|myxomatous valvular dystrophy, X-linked SCTID:718128009|Orphanet:1864|GARD:0001096|OMIM:314400|MESH:C535576|Orphanet:555877|ICD10:Q24.8|DOID:0111765 https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked owl:Class MONDO:0017131 biolink:NamedThing genetic cardiac anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:271853 owl:Class CL:1001589 biolink:NamedThing duodenum glandular cell Glandular cell of duodenal epithelium. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Brunner's gland cell. tmpak2llvmy_mondo_relaxed.owl duodenum glandular cells CALOHA:TS-1275 owl:Class CL:0000150 biolink:NamedThing glandular epithelial cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. tmpak2llvmy_mondo_relaxed.owl FMA:86494|CALOHA:TS-2085 cell owl:Class GO:2000611 biolink:NamedThing positive regulation of thyroid hormone generation Any process that activates or increases the frequency, rate or extent of thyroid hormone generation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025556 biolink:NamedThing isocyanate induced asthma tmpak2llvmy_mondo_relaxed.owl isocyanates allergic asthma UMLS:C1321273|DOID:0040041|SCTID:404808000|ICD9:506.3 owl:Class MONDO:0004784 biolink:NamedThing allergic asthma A asthma with a basis in a pathological type I hypersensitivity reaction. tmpak2llvmy_mondo_relaxed.owl allergic form of asthma|atopic asthma|extrinsic asthma with status asthmaticus|extrinsic asthma with acute exacerbation ICD9:493.0|DOID:9415|ICD10:J45|UMLS:C0155877|SCTID:389145006 owl:Class MONDO:0009016 biolink:NamedThing band keratopathy The deposition of calcium on the cornea, resulting in pain and decreased visual acuity. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, band-SHAPED|band-shaped keratopathy|band keratopathy DOID:11164|NCIT:C118765|MESH:C562399|ICD10:H18.42|ICD9:371.43|UMLS:C0155120|OMIM:217500|SCTID:35055000 owl:Class MONDO:0018102 biolink:NamedThing corneal dystrophy The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy (disease)|corneal dystrophy corneal dystrophy (disease) NCIT:C34513|ICD10:H18.50|HP:0001131|MESH:D003317|ICD10:H18.5|ICD9:371.5|SCTID:5587004|Orphanet:34533|MedDRA:10011005|ICD9:371.50|UMLS:C0010036|DOID:2566 Editor note: NCIT distinguishes between acquired and genetic owl:Class ECTO:7000018 biolink:NamedThing exposure to rock A exposure event involving the interaction of an exposure receptor to rock. tmpak2llvmy_mondo_relaxed.owl rock exposure owl:Class UBERON:0009881 biolink:NamedThing anterior lateral plate mesoderm tmpak2llvmy_mondo_relaxed.owl ALPM owl:Class UBERON:0005291 biolink:NamedThing embryonic tissue A portion of tissue that is part of an embryo. tmpak2llvmy_mondo_relaxed.owl portion of embryonic tissue|developing tissue owl:Class MONDO:0004879 biolink:NamedThing senile atrophy of choroid tmpak2llvmy_mondo_relaxed.owl ICD9:363.41|UMLS:C0154891|DOID:9776|SCTID:38513001 owl:Class MONDO:0004885 biolink:NamedThing choroidal sclerosis A neurodegenerative disease that involves the optic choroid. tmpak2llvmy_mondo_relaxed.owl neurodegenerative disease of optic choroid|optic choroid neurodegenerative disease|choroidal degenerations ICD10:H31.1|ICD9:363.40|SCTID:406446000|ICD9:363.4|MESH:C535358|DOID:980|ICD10:H31.10 owl:Class MONDO:0001586 biolink:NamedThing mucopolysaccharidosis type 1 The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). tmpak2llvmy_mondo_relaxed.owl Hurler syndrome|lipochondrodystrophy|severe MPS I (subtype, also known as Hurler syndrome)|MPS 1|mucopolysaccharidosis type I|MPS I|Hurler-Scheie syndrome (subtype)|mucopolysaccharidosis, type 1|Alpha-L-iduronidase deficiency|MPS I - Hurler syndrome|attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)|IDUA deficiency|MPSI|mucopolysaccharidosis I|iduronidase deficiency disease|Hurler syndrome (subtype)|mucopolysaccharidosis, MPS-I|MPS1|Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)|mucopolysaccharidosis type 1 ICD10:E76.0|NCIT:C85053|Orphanet:579|GARD:0010335|SCTID:75610003|DOID:12802|MedDRA:10056886 owl:Class MONDO:0019706 biolink:NamedThing lysosomal storage disease with skeletal involvement tmpak2llvmy_mondo_relaxed.owl dysostosis multiplex 2022-03-01 ICD9:756.9|SCTID:254069004|UMLS:CN206618|Orphanet:93448 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: lysosomal storage disease' MONDO_0002561 owl:Class MONDO:0021232 biolink:NamedThing pineal body neoplasm A neoplasm (disease) that involves the pineal body. tmpak2llvmy_mondo_relaxed.owl pineal tumor|neoplasm of pineal area|tumor of pineal body|pineal neoplasm|pineal region neoplasm|neoplasm of pineal body|pineal area tumor|neoplasm of the pineal region|neoplasm of the pineal area|tumor of the pineal area|pineal body neoplasm (disease)|neoplasm of pineal region|tumor of pineal region|pinealoma|pineal region tumor|tumor of pineal area|tumor of the pineal region|pineal body tumor|pineal area neoplasm ONCOTREE:PINT|NCIT:C3328 owl:Class MONDO:0003081 biolink:NamedThing thalamic disease A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma. tmpak2llvmy_mondo_relaxed.owl dorsal plus ventral thalamus disease or disorder|disease or disorder of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease|disorder of dorsal plus ventral thalamus|disease of dorsal plus ventral thalamus UMLS:C0039726|NCIT:C85186|MESH:D013786|DOID:4662 owl:Class MONDO:0002744 biolink:NamedThing fallopian tube mucinous adenocarcinoma An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas. tmpak2llvmy_mondo_relaxed.owl fallopian tube mucinous adenocarcinoma NCIT:C40103|DOID:3704|UMLS:C1517119 owl:Class MONDO:0004957 biolink:NamedThing mucinous adenocarcinoma An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland. tmpak2llvmy_mondo_relaxed.owl gelatinous carcinoma|mucin-producing adenocarcinoma (morphologic abnormality)|mucinous adenocarcinoma|mucinuos carcinoma|mucin-producing adenocarcinoma|colloid carcinoma|mucinous carcinoma|mucoid carcinoma|mucous carcinoma|pseudomyxoma peritonei with unknown primary site|adenocarcinoma, mucinous, malignant|mucin-secreting carcinoma|CEMU|colloid adenocarcinoma|mucous adenocarcinoma|mucoid adenocarcinoma|gelatinous adenocarcinoma|mucin-secreting adenocarcinoma DOID:3030|NCIT:C26712|MESH:D002288|UMLS:C0007130|UMLS:C0334368|ONCOTREE:CEMU|ICDO:8480/3|EFO:0000197 owl:Class HP:0003473 biolink:NamedThing Fatigable weakness A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpak2llvmy_mondo_relaxed.owl Fatigable weakness of limb muscles|Generalized muscle weakness due to defect at the neuromuscular junction|Myasthenia|Generalised muscle weakness due to defect at the neuromuscular junction|Myasthenic weakness|Proximal muscle weakness due to defect at the neuromuscular junction UMLS:C0947912 This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. HP:0003399|HP:0100794|HP:0003428 human_phenotype owl:Class HP:0001324 biolink:NamedThing Muscle weakness Reduced strength of muscles. tmpak2llvmy_mondo_relaxed.owl Muscle weakness|Muscular weakness SNOMEDCT_US:26544005|MSH:D018908|UMLS:C0151786 It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. HP:0009012|HP:0008979|HP:0002309|HP:0009061 human_phenotype owl:Class HP:0002027 biolink:NamedThing Abdominal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. tmpak2llvmy_mondo_relaxed.owl Pain in stomach|Upset stomach|Gastro pain|Stomach pain|Abdominal pain|Abdominal discomfort|Gastrointestinal pain UMLS:C0000737|SNOMEDCT_US:21522001|MEDDRA:10000081|MSH:D015746 Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. human_phenotype owl:Class HP:0012531 biolink:NamedThing Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. tmpak2llvmy_mondo_relaxed.owl Pain SNOMEDCT_US:22253000|MSH:D010146|UMLS:C0030193 peter 2013-12-15T09:38:08Z human_phenotype owl:Class GO:0008206 biolink:NamedThing bile acid metabolic process The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. tmpak2llvmy_mondo_relaxed.owl bile acid metabolism owl:Class GO:0008202 biolink:NamedThing steroid metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpak2llvmy_mondo_relaxed.owl steroid metabolism owl:Class UBERON:0010334 biolink:NamedThing maxillary process mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a maxillary process mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009526 biolink:NamedThing maxillary process mesenchyme Mesenchyme that is part of a maxillary prominence. tmpak2llvmy_mondo_relaxed.owl mesenchyme of maxillary process|mesenchyme of maxillary prominence owl:Class GO:0010976 biolink:NamedThing positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpak2llvmy_mondo_relaxed.owl positive regulation of neurite formation|positive regulation of neurite development|positive regulation of neurite growth|positive regulation of neurite biosynthesis owl:Class GO:0031346 biolink:NamedThing positive regulation of cell projection organization Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpak2llvmy_mondo_relaxed.owl activation of cell projection organization|up-regulation of cell projection organization|upregulation of cell projection organization|positive regulation of cell projection organization and biogenesis|up regulation of cell projection organization|stimulation of cell projection organization|positive regulation of cell projection organisation owl:Class MONDO:0006734 biolink:NamedThing benign duodenal neoplasm A non-metastasizing neoplasm arising from the wall of the duodenum. tmpak2llvmy_mondo_relaxed.owl duodenal benign neoplasm|benign neoplasm of duodenum|benign tumor of the duodenum|duodenum benign neoplasm|neoplasm of the duodenum|benign tumor of duodenum|benign duodenal tumor|benign duodenal neoplasm|benign neoplasm of the duodenum DOID:1737|EFO:1000907|NCIT:C4775|SCTID:92080005|MedDRA:10004251 MONDO:0021504 owl:Class UBERON:0004982 biolink:NamedThing mucosa of epiglottis A mucosa that is part of a epiglottis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epiglottis mucosa of organ|mucosa of organ of epiglottis|organ mucosa of epiglottis|epiglottis mucosa|mucous membrane of epiglottis|epiglottis organ mucosa|epiglottis mucous membrane owl:Class UBERON:0000344 biolink:NamedThing mucosa A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] tmpak2llvmy_mondo_relaxed.owl region of mucosa|organ mucosa|mucosa of organ|mucosal region|tunica mucosa|mucous membrane|mucosa of organ part owl:Class MONDO:0044725 biolink:NamedThing combined immunodeficiency due to GINS1 deficiency tmpak2llvmy_mondo_relaxed.owl combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia|IMD55|Cid due to GINS1 deficiency|immunodeficiency 55|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia OMIM:617827|UMLS:CN737162|Orphanet:505227 https://github.com/monarch-initiative/mondo/issues/3191 owl:Class MONDO:0018035 biolink:NamedThing syndrome with combined immunodeficiency tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN204279|Orphanet:331217 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0005903 biolink:NamedThing pericardial tuberculosis Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart. tmpak2llvmy_mondo_relaxed.owl tuberculous pericarditis ICD10:A18.84|ICD9:017.90|EFO:0007426|MESH:D010495|DOID:4962|SCTID:67256000|UMLS:C0031049 owl:Class MONDO:0005904 biolink:NamedThing pericarditis An inflammatory process affecting the pericardium. tmpak2llvmy_mondo_relaxed.owl pericardium inflammation|pericarditis (disease)|pericarditis|inflammation of pericardium pericarditis (disease) UMLS:C0031046|DOID:1787|EFO:0007427|MESH:D010493|NCIT:C34915|HP:0001701|SCTID:3238004 owl:Class MONDO:0018510 biolink:NamedThing small intestine neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl neuroendocrine neoplasm of the small intestine|neuroendocrine tumor of small bowel|neuroendocrine tumor of the small intestine|small intestine neuroendocrine tumor|small intestine NET|small intestinal neuroendocrine neoplasm|neuroendocrine neoplasm of small intestine|small intestine neuroendocrine tumor, well differentiated, low or intermediate grade|NET of the small intestine|small intestine neuroendocrine neoplasm Orphanet:423975|DOID:4434|UMLS:CN237515|NCIT:C5803|UMLS:C1336005 owl:Class MONDO:0019496 biolink:NamedThing neuroendocrine neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). tmpak2llvmy_mondo_relaxed.owl APUDoma|neuroendocrine neoplasm|neuroendocrine tumor ICD9:239.7|SCTID:255046005|ICD9:209-209.99|NCIT:C3809|EFO:1001901|Orphanet:877|ICD10:D3A.8|DOID:169|MESH:D018358|UMLS:CN206284|UMLS:C0206754|UMLS:C0003650|ICD9:209 Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass owl:Class MONDO:0001537 biolink:NamedThing tuberculous epididymitis An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis. tmpak2llvmy_mondo_relaxed.owl SCTID:83652003|ICD9:016.42|UMLS:C0152814|ICD9:016.40|ICD9:016.4|DOID:1251|ICD9:016.41|ICD9:016.46 owl:Class MONDO:0006845 biolink:NamedThing male genital tuberculosis Mycobacterium infections of the male reproductive tract (genitalia, male). tmpak2llvmy_mondo_relaxed.owl Tuberculoses, Male genital|genital Tuberculoses, Male|Male genital Tuberculoses|genital tuberculosis, Male|male reproductive system tuberculosis|male genital tuberculosis EFO:1001030|MedDRA:10061234|MESH:D014389|UMLS:C0041317|SCTID:240379005 owl:Class MONDO:0016923 biolink:NamedThing partial duplication of chromosome 3 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome type 3|partial trisomy of chromosome 3 SCTID:726341009|Orphanet:262201 owl:Class MONDO:0020052 biolink:NamedThing partial autosomal trisomy/tetrasomy tmpak2llvmy_mondo_relaxed.owl Orphanet:98132 owl:Class CL:1000467 biolink:NamedThing chromaffin cell of left ovary A chromaffin cell that is part of the left ovary. tmpak2llvmy_mondo_relaxed.owl FMA:74321 cell owl:Class CL:0000166 biolink:NamedThing chromaffin cell A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system. tmpak2llvmy_mondo_relaxed.owl phaeochromocyte BTO:0000259|FMA:69263 cell owl:Class GO:0002888 biolink:NamedThing positive regulation of myeloid leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl upregulation of myeloid leukocyte mediated immunity|up regulation of myeloid leukocyte mediated immunity|activation of myeloid leukocyte mediated immunity|stimulation of myeloid leukocyte mediated immunity|up-regulation of myeloid leukocyte mediated immunity owl:Class GO:0002886 biolink:NamedThing regulation of myeloid leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006577 biolink:NamedThing maxillary sinus cholesteatoma A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment. tmpak2llvmy_mondo_relaxed.owl maxillary sinus cholesteatoma (disease)|cholesteatoma (disease) of maxillary sinus DOID:867|EFO:1000731|NCIT:C35868|UMLS:C1334644 owl:Class MONDO:0001735 biolink:NamedThing paranasal sinus disease A disease involving the paranasal sinus. tmpak2llvmy_mondo_relaxed.owl disease or disorder of paranasal sinus|disorder of nasal sinus|paranasal sinus disease|paranasal sinus disorder|paranasal sinus disease or disorder|disorder of paranasal sinus|sinus disorder|disease of paranasal sinus UMLS:C0030469|DOID:1352|NCIT:C26843|ICD9:478.1|SCTID:7393007|MESH:D010254 owl:Class MONDO:0009823 biolink:NamedThing primary hyperoxaluria type 1 A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. tmpak2llvmy_mondo_relaxed.owl serine:pyruvate aminotransferase deficiency|primary hyperoxaluria type I|glycolic aciduria|peroxisomal alanine:glyoxylate aminotransferase deficiency|AGXT primary hyperoxaluria|primary hyperoxaluria type 1|peroxisomal alanine glyoxylate aminotransferase deficiency|hyperoxaluria, primary, type I|PH1|alanine-glyoxylate aminotransferase deficiency|hyperoxaluria, primary, type 1|Oxalosis 1|HP1|hepatic AGT deficiency|serine pyruvate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|primary hyperoxaluria caused by mutation in AGXT NCIT:C123212|DOID:0111670|UMLS:C0268164|Orphanet:93598|GARD:0002835|SCTID:65520001|ICD9:271.8|ICD10:E74.8|MESH:C536414|OMIM:259900 https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0002474 biolink:NamedThing primary hyperoxaluria A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. tmpak2llvmy_mondo_relaxed.owl hyperoxaluria, primary|primary hyperoxaluria OMIMPS:259900|ICD10:E72.53|Orphanet:416|ICD9:271.8|DOID:2977|ICD10:E74.8|SCTID:17901006|UMLS:C0020501|MedDRA:10020703|MESH:D006960|NCIT:C123158 owl:Class MONDO:0004837 biolink:NamedThing neurofibroma of the esophagus A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. tmpak2llvmy_mondo_relaxed.owl neurofibroma of esophagus|esophageal neurofibroma|esophagus neurofibroma|neurofibroma of the esophagus NCIT:C5704|UMLS:C1333463|DOID:961 owl:Class MONDO:0021355 biolink:NamedThing neoplasm of esophagus A neoplasm (disease) that involves the esophagus. tmpak2llvmy_mondo_relaxed.owl esophageal tumors|tumor of the esophagus|neoplasm of the esophagus|esophagus neoplasm|neoplasm of esophagus|esophageal neoplasm|esophageal neoplasms, benign and malignant|esophageal tumor|esophagus neoplasm (disease)|esophagus tumor|tumor of esophagus NCIT:C3028|UMLS:C0014859|SCTID:126817006 owl:Class MONDO:0010225 biolink:NamedThing Dent disease type 1 Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. tmpak2llvmy_mondo_relaxed.owl urolithiasis, hypercalciuric, X-linked|CLCN5 Dent disease|nephrolithiasis, hypercalciuric, X-linked|Dent disease caused by mutation in CLCN5|Dent disease type 1|DENT disease 1|nephrolithiasis type 1|nephrolithiasis 2 UMLS:C4305530|OMIM:300009|UMLS:CN206679|Orphanet:93622|SCTID:717789008|ICD10:N25.8 owl:Class MONDO:0015612 biolink:NamedThing Dent disease Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. tmpak2llvmy_mondo_relaxed.owl Dent disease 1|Dent disease 2|Dents disease|X-linked recessive nephrolithiasis|X-linked recessive hypercalciuric hypophosphatemic rickets|Dent's disease|X-linked recessive hypophosphatemic rickets|renal Fanconi syndrome with nephrocalcinosis and renal stones|low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis|Dent syndrome MedDRA:10069199|NCIT:C123260|UMLS:CN239269|ICD10:N25.8|SCTID:444645005|GARD:0013105|MESH:D057973|OMIMPS:300009|Orphanet:1652|UMLS:C0878681|DOID:0050699 owl:Class MONDO:0011385 biolink:NamedThing intervertebral disc degenerative disorder Any disease of a degenerative nature that affects the intervertebral disc. tmpak2llvmy_mondo_relaxed.owl intervertebral Disc degenerative disorder|intervertebral Disc Degeneration|vertebral disc disease|intervertebral Disc degenerative disease|vertebral Disc degenerative disorder|intervertebral disk degenerative disorder|lumbar disc degeneration|vertebral Disc degenerative disease|cervical disc degenerative disease|degenerative disorder of intervertebral disk|intervertebral disc disease|intervertebral disc degeneration|degenerative disc disease|IDD NCIT:C26983|SCTID:77547008|MESH:D055959|DOID:90|UMLS:C0158266|ICD9:722.6 owl:Class MONDO:0000812 biolink:NamedThing vertebral column disease A disease involving the vertebral column. tmpak2llvmy_mondo_relaxed.owl disease of spine|disorder of vertebral column|spinal disease|vertebral column disease or disorder|disease or disorder of vertebral column|vertebral column disease|disease of vertebral column DOID:0060564|ICD9:724.9|MESH:D013122|SCTID:699699005|UMLS:C0037933 owl:Class MONDO:0018315 biolink:NamedThing X-linked osteoporosis with fractures tmpak2llvmy_mondo_relaxed.owl Orphanet:391330|ICD10:M80.5 owl:Class MONDO:0004962 biolink:NamedThing stage II endometrioid carcinoma Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus. tmpak2llvmy_mondo_relaxed.owl EFO:0000206 owl:Class MONDO:0005026 biolink:NamedThing endometrioid adenocarcinoma An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament. tmpak2llvmy_mondo_relaxed.owl endometrioid carcinoma of female reproductive system|endometrioid carcinoma of the female reproductive system|female reproductive endometrioid carcinoma|endometrioid carcinoma|endometrioid adenocarcinoma ICDO:8380/3|EFO:0000466|UMLS:C1569637|UMLS:C0206687|NCIT:C3769 owl:Class MONDO:0030004 biolink:NamedThing autism, susceptibility to, 20 tmpak2llvmy_mondo_relaxed.owl AUTISM, SUSCEPTIBILITY TO, 20|AUTS20|autism, susceptibility to, 20 OMIM:618830 owl:Class MONDO:0020573 biolink:NamedThing inherited disease susceptibility A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. tmpak2llvmy_mondo_relaxed.owl genetic predisposition|predisposition, genetic|hereditary predisposition to disease|susceptibilities, genetic|genetic susceptibility|susceptibility, genetic|genetic susceptibilities|hereditary disease susceptibility|predispositions, genetic|genetic predispositions MESH:D020022 cjm 2017-09-30T12:01:25Z owl:Class GO:1902491 biolink:NamedThing negative regulation of sperm capacitation Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation. tmpak2llvmy_mondo_relaxed.owl down regulation of sperm activation|inhibition of sperm activation|inhibition of sperm capacitation|downregulation of sperm activation|negative regulation of sperm activation|down-regulation of sperm capacitation|down regulation of sperm capacitation|down-regulation of sperm activation|downregulation of sperm capacitation owl:Class UBERON:0003705 biolink:NamedThing Meckel's diverticulum A small bulge in the small intestine present at birth. It is a vestigial remnant of the omphalomesenteric duct tmpak2llvmy_mondo_relaxed.owl ileal diverticulum|Meckels diverticulum|meckel diverticulum|diverticulum of Meckel|Meckel's diverticulum owl:Class UBERON:0006590 biolink:NamedThing remnant of embryonic structure A vestigial structure that is a remnant of an embryonic structure that remains in the adult organism. tmpak2llvmy_mondo_relaxed.owl vestigial embryonic structure owl:Class MONDO:0019520 biolink:NamedThing syndromic lymphedema A lymphedema that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with lymphedema|syndromic lymphedema UMLS:CN227645|Orphanet:89832 owl:Class MONDO:0019297 biolink:NamedThing lymphedema Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. tmpak2llvmy_mondo_relaxed.owl lymphatic edema (morphologic abnormality)|lymphatic edema|lymphoedema MedDRA:10025282|ICD9:457.1|UMLS:C0024236|DOID:4977|MESH:D008209|Orphanet:79383|GARD:0012563|SCTID:234097001|NCIT:C3207 owl:Class GO:0090285 biolink:NamedThing negative regulation of protein glycosylation in Golgi Any process that decreases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpak2llvmy_mondo_relaxed.owl negative regulation of protein amino acid glycosylation in Golgi owl:Class MONDO:0021275 biolink:NamedThing papilloma of eyelid A papilloma that involves the eyelid. tmpak2llvmy_mondo_relaxed.owl eyelid papilloma|papilloma of the eyelid SCTID:314515006|NCIT:C4061|UMLS:C1142491 owl:Class MONDO:0002536 biolink:NamedThing skin papilloma A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin. tmpak2llvmy_mondo_relaxed.owl papilloma of skin|papilloma of the skin|zone of skin papilloma|basosquamous tumor, benign|cutaneous papilloma|skin papilloma DOID:3178|UMLS:C0347390|SCTID:255184001|NCIT:C4614 owl:Class MONDO:0014986 biolink:NamedThing Fanconi anemia complementation group R Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. tmpak2llvmy_mondo_relaxed.owl Fanconi Anemia, complementation group R|Fanconi anemia complementation group type R|Fanconi anemia, complementation GROUP R|RAD51 Fanconi anemia|Fanconi anemia caused by mutation in RAD51|FANCR|Fanconi Anemia, complementation group type R UMLS:C4284093|OMIM:617244|DOID:0111090 owl:Class MONDO:0019391 biolink:NamedThing Fanconi anemia Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. tmpak2llvmy_mondo_relaxed.owl Panmyelopathy, Fanconi|Fanconi's anemia|Fanconi pancytopenia|pancytopenia, congenital|Fanconi anemia|primary erythroid hypoplasia|Fanconi panmyelopathy Orphanet:84|UMLS:C0015625|MESH:D005199|NCIT:C62505|DOID:13636|SCTID:30575002|GARD:0006425|OMIMPS:227650|MedDRA:10055206|ICD9:284.09|ICD10:D61.09|ICD10:D61.0 owl:Class GO:1902572 biolink:NamedThing negative regulation of serine-type peptidase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine-type peptidase activity. tmpak2llvmy_mondo_relaxed.owl down regulation of serine-type peptidase activity|inhibition of serine protease activity|down-regulation of serine-type peptidase activity|negative regulation of serine protease activity|inhibition of serine-type peptidase activity|downregulation of serine-type peptidase activity|down-regulation of serine protease activity|down regulation of serine protease activity|downregulation of serine protease activity owl:Class GO:0010466 biolink:NamedThing negative regulation of peptidase activity Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20670 biolink:NamedThing TWIST2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007340 biolink:NamedThing cleidocranial dysplasia Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. tmpak2llvmy_mondo_relaxed.owl cleidocranial dysplasia, forme fruste, dental anomalies only|cleidocranial dysplasia|cleidocranial dysplasia, forme fruste, with brachydactyly|CCD|cleidocranial dysostosis|Marie-Sainton disease|CLCD|dysplasia cleidocranial Orphanet:1452|OMIM:119600|ICD10:Q74.0|SCTID:65976001|ICD9:755.59|NCIT:C75020|DOID:13994|GARD:0006118|MESH:D002973|UMLS:C0008928 owl:Class MONDO:0020018 biolink:NamedThing cranial malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:98038 owl:Class MONDO:0006405 biolink:NamedThing salivary gland small cell carcinoma An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures. tmpak2llvmy_mondo_relaxed.owl neuroendocrine carcinoma of the salivary gland|small cell salivary gland carcinoma|salivary gland anaplastic small cell carcinoma|neuroendocrine carcinoma of salivary gland|anaplastic small cell carcinoma of salivary gland|anaplastic small cell carcinoma of the salivary gland|saliva-secreting gland small cell carcinoma|salivary gland small cell carcinoma|salivary gland neuroendocrine carcinoma|small cell carcinoma of saliva-secreting gland UMLS:C1335982|NCIT:C35703|EFO:1000519 owl:Class MONDO:0024503 biolink:NamedThing digestive system neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas). tmpak2llvmy_mondo_relaxed.owl alimentary part of gastrointestinal system NET|carcinoid tumor|gastrointestinal neuroendocrine neoplasm|digestive system neuroendocrine neoplasm|alimentary part of gastrointestinal system neuroendocrine neoplasm|alimentary part of gastrointestinal system neuroendocrine tumor|neuroendocrine neoplasm of digestive system|gastro-enteropancreatic neuroendocrine tumor|GEP-NET|GEP-NEN|alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade|GEP tumors|gastroenteropancreatic neuroendocrine neoplasm|carcinoid tumor of digestive system|neuroendocrine neoplasm of alimentary part of gastrointestinal system|digestive system NET|digestive system neuroendocrine tumor|gastroenteropancreatic endocrine tumor|gastrointestinal system neuroendocrine neoplasm|digestive system neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:100092|GARD:0002437|NCIT:C27721|UMLS:CN197371|MESH:C535650 https://rarediseases.info.nih.gov/diseases/2437/gastro-enteropancreatic-neuroendocrine-tumor owl:Class MONDO:0009149 biolink:NamedThing ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040|UMLS:C1857053|MESH:C565605|Orphanet:1812|ICD10:Q87.8 owl:Class MONDO:0019287 biolink:NamedThing ectodermal dysplasia syndrome The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia|congenital ectodermal defect|ectodermal dysplasia (select examples) SCTID:8654005|ICD9:757.31|OMIMPS:305100|NCIT:C84683|GARD:0006317|MedDRA:10010452|UMLS:C0013575|DOID:2121|Orphanet:79373|MESH:D004476 owl:Class MONDO:0001614 biolink:NamedThing intra-abdominal lymph node mast cell malignancy tmpak2llvmy_mondo_relaxed.owl malignant mast cell tumors involving intra-abdominal lymph nodes|mast cell malignancy of intra-abdominal lymph nodes SCTID:188664008|UMLS:C0153844|ICD9:202.63|DOID:13005 owl:Class MONDO:0001082 biolink:NamedThing lymph node cancer A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004 tmpak2llvmy_mondo_relaxed.owl lymph node cancer|malignant lymph node neoplasm|malignant neoplasm of lymph node|lymph node neoplasm|cancer of lymph node SCTID:127232002|DOID:10619|ICD9:239.89|NCIT:C35812 owl:Class UBERON:0002059 biolink:NamedThing submandibular ganglion the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands tmpak2llvmy_mondo_relaxed.owl Blandin`s ganglion|mandibular ganglion|lingual ganglion|maxillary ganglion|ganglion submandibulare|submaxillary ganglion owl:Class UBERON:0000045 biolink:NamedThing ganglion A biological tissue mass, most commonly a mass of nerve cell bodies. tmpak2llvmy_mondo_relaxed.owl neural ganglion|ganglia owl:Class HGNC:6293 biolink:NamedThing KCNN4 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:0000509 biolink:NamedThing exposure to drug An exposure to drug. tmpak2llvmy_mondo_relaxed.owl exposure to drug owl:Class ECTO:0000486 biolink:NamedThing exposure to chemical with application An exposure to application. tmpak2llvmy_mondo_relaxed.owl exposure to application owl:Class MONDO:0000535 biolink:NamedThing tonsil squamous cell carcinoma A squamous cell carcinoma that involves the tonsil. tmpak2llvmy_mondo_relaxed.owl tonsil squamous cell carcinoma DOID:0050920 owl:Class MONDO:0010132 biolink:NamedThing familial thyroid dyshormonogenesis A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. tmpak2llvmy_mondo_relaxed.owl dyshormonogenesis|nongoitrous hyperthyrotropinemia|thyroid dyshormonogenesis ICD10:E03.1|ICD10:E03.0|MESH:C564766|SCTID:718183003|NCIT:C121751|UMLS:C1848805|Orphanet:95716 https://github.com/monarch-initiative/mondo/issues/642 owl:Class MONDO:0005066 biolink:NamedThing metabolic disease A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. tmpak2llvmy_mondo_relaxed.owl metabolic disease|metabolic disorder|metabolic process disease|disorder of metabolic process|disease of metabolism ICD10:E70.E90|SCTID:75934005|EFO:0000589|ICD9:277.9|UMLS:C0025517|ICD9:277.8|DOID:0014667|MESH:D008659|ICD10:E88.9|NCIT:C3235 owl:Class MONDO:0010448 biolink:NamedThing moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl syndromic Moyamoya disease|MYMY4|chromosome Xq28 deletion syndrome, 3.4-Kb|Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism UMLS:C3151857|Orphanet:280679|OMIM:300845 owl:Class MONDO:0021046 biolink:NamedThing breast fibroepithelial neoplasm A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor. tmpak2llvmy_mondo_relaxed.owl breast fibroepithelial tumor|breast fibroepithelial neoplasms|breast fibroepithelial neoplasm|BFN NCIT:C40405|ONCOTREE:BFN|UMLS:C1511309 owl:Class MONDO:0021100 biolink:NamedThing breast neoplasm A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males. tmpak2llvmy_mondo_relaxed.owl breast tumor|neoplasm of breast|tumor of breast|neoplasm of the breast|tumor of the breast|breast neoplasm|neoplasm, breast|breast neoplasm (disease) SCTID:126926005|ICD9:239.3|MESH:D001943|NCIT:C2910|ONCOTREE:BREAST|EFO:0003869|UMLS:CN236627 owl:Class GO:0002824 biolink:NamedThing positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002822 biolink:NamedThing regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048581 biolink:NamedThing negative regulation of post-embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpak2llvmy_mondo_relaxed.owl inhibition of post-embryonic development|down regulation of post-embryonic development|downregulation of post-embryonic development|down-regulation of post-embryonic development owl:Class GO:0051093 biolink:NamedThing negative regulation of developmental process Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpak2llvmy_mondo_relaxed.owl downregulation of developmental process|down regulation of developmental process|down-regulation of developmental process|inhibition of developmental process owl:Class HGNC:3377 biolink:NamedThing EPB41 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003333 biolink:NamedThing amino acid transmembrane transport The process in which an amino acid is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl amino acid membrane transport owl:Class GO:0006865 biolink:NamedThing amino acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019052 biolink:NamedThing inborn errors of metabolism An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. tmpak2llvmy_mondo_relaxed.owl rare inborn errors of metabolism|inborn metabolic disorder|inborn error of metabolism|inborn disorders of metabolism|inherited metabolic disorder|rare inherited metabolic disorder|congenital metabolism disorder|metabolic hereditary disorder|inherited disorders of metabolism|inborn errors of metabolism|congenital metabolic disorder|rare metabolic disease|inherited disorder of metabolism|inborn metabolism disorder|hereditary metabolic disease Orphanet:68367|MESH:D008661|DOID:655|MedDRA:10062018|UMLS:C0025521|NCIT:C34816|MedDRA:10058097|SCTID:86095007 https://github.com/monarch-initiative/mondo/issues/1483 owl:Class MONDO:0010347 biolink:NamedThing intellectual disability, X-linked 84 tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 84|MRX84|mental retardation, X-linked 84 OMIM:300505|UMLS:C1845297|MESH:C564501 owl:Class MONDO:0019181 biolink:NamedThing non-syndromic X-linked intellectual disability Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked, nonsyndromic|isolated X-linked intellectual disability|X-linked non-syndromic intellectual disability|intellectual disability, X-linked, nonsyndromic|non-specific X-linked mental retardation|nonsyndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability|non-syndromic intellectual disability, X-linked|intellectual disability, nonsyndromic, X-linked|mental retardation, nonsyndromic, X-linked|non-specific X-linked intellectual disability|X-linked non-specific intellectual disability UMLS:C3501611|OMIMPS:309530|MESH:C564490|GARD:0003542|DOID:0050776|Orphanet:777 owl:Class MONDO:0032800 biolink:NamedThing robinow syndrome, autosomal recessive 2 tmpak2llvmy_mondo_relaxed.owl RRS2|ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 OMIM:618529 owl:Class MONDO:0019978 biolink:NamedThing Robinow syndrome Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. tmpak2llvmy_mondo_relaxed.owl fetal face syndrome|acral dysostosis with facial and genital abnormalities|Covesdem syndrome (formerly)|mesomelic dwarfism-small genitalia syndrome|Robinow dwarfism|costovertebral segmentation defect with mesomelia (formerly)|Robinow-Silverman-Smith syndrome ICD10:Q87.1|OMIMPS:268310|NCIT:C85048|UMLS:CN776872|GARD:0000312|UMLS:C0265205|DOID:0060254|Orphanet:97360 owl:Class MONDO:0020111 biolink:NamedThing constitutional megaloblastic anemia due to folate metabolism disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227786|ICD10:D52.8|Orphanet:98408 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: HP_0001889 Megaloblastic anemia' HP_0001889 owl:Class MONDO:0001700 biolink:NamedThing megaloblastic anemia Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. tmpak2llvmy_mondo_relaxed.owl megaloblastic anemia (disease)|RH-MGA1|IGS|MGA1 Norwegian type|recessive hereditary megaloblastic anemia 1|megaloblastic anemia|Grasbeck-Imerslund syndrome megaloblastic anemia (disease) ICD10:D53.1|ICD9:281.3|SCTID:53165003|UMLS:C0002888|DOID:13382|NCIT:C34382|HP:0001889 owl:Class MONDO:0009026 biolink:NamedThing Costello syndrome Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. tmpak2llvmy_mondo_relaxed.owl myopathy, congenital, with excess of muscle spindles|CSTLO|faciocutaneoskeletal syndrome|Costello syndrome|FCS syndrome GARD:0001550|DOID:0050469|UMLS:C0587248|ICD10:Q87.8|OMIM:218040|SCTID:309776008|MESH:D056685|MedDRA:10067380|Orphanet:3071|ICD9:799.89|NCIT:C84652 https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome owl:Class HGNC:3528 biolink:NamedThing F10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011006 biolink:NamedThing hereditary spastic paraplegia 9A tmpak2llvmy_mondo_relaxed.owl spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux|cataracts motor neuropathy-short stature-skeletal anomalies syndrome|SPG9A|autosomal dominant spastic paraplegia 9A|spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities|hereditary spastic paraplegia type 9A|autosomal dominant complex spastic paraplegia type 9A|spastic paraplegia 9A, autosomal dominant|cataracts with motor neuronopathy, short stature and skeletal abnormalities|AD-SPG9A OMIM:601162|DOID:0110824|MESH:C536868|ICD10:G11.4|Orphanet:447753|UMLS:CN237701 owl:Class MONDO:0022672 biolink:NamedThing autosomal dominant cataract A syndromic cataract that has autosomal dominant inheritance. tmpak2llvmy_mondo_relaxed.owl cataract congenital autosomal dominant GARD:0001143 https://rarediseases.info.nih.gov/diseases/1143/cataract-congenital-autosomal-dominant owl:Class UBERON:0001228 biolink:NamedThing renal papilla Tip of renal pyramid projecting into a minor calyx. tmpak2llvmy_mondo_relaxed.owl kidney papilla owl:Class UBERON:0001651 biolink:NamedThing right pulmonary artery The pulmonary artery that supplies the right lung. tmpak2llvmy_mondo_relaxed.owl arteria pulmonalis dextra|right main pulmonary artery|right pulmonary arterial tree owl:Class UBERON:0001637 biolink:NamedThing artery An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. tmpak2llvmy_mondo_relaxed.owl arterial tree organ part|arteries|arterial system|arterial vessel|arterial subtree owl:Class UBERON:0015079 biolink:NamedThing proximal carpal cartilage A proximal carpal endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015078 biolink:NamedThing proximal carpal endochondral element A proximal mesopodial endochondral element that is part of a forelimb. tmpak2llvmy_mondo_relaxed.owl proximal carpal element|proximal carpal owl:Class MONDO:0004069 biolink:NamedThing inborn mitochondrial metabolism disorder Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. tmpak2llvmy_mondo_relaxed.owl mitochondrial disease|mitochondrial metabolism disease|mitochondrial genetic disorders DOID:700|GARD:0007048|MESH:D028361|Orphanet:68380 https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders owl:Class GO:0060295 biolink:NamedThing regulation of cilium movement involved in cell motility Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003352 biolink:NamedThing regulation of cilium movement Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpak2llvmy_mondo_relaxed.owl regulation of flagellar movement|regulation of microtubule-based flagellum movement|regulation of flagellum movement owl:Class GO:0006355 biolink:NamedThing regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. tmpak2llvmy_mondo_relaxed.owl regulation of cellular transcription, DNA-dependent|transcriptional control|regulation of transcription, DNA-dependent|regulation of gene-specific transcription owl:Class GO:2000112 biolink:NamedThing regulation of cellular macromolecule biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of cellular macromolecule synthesis|regulation of cellular macromolecule anabolism|regulation of cellular macromolecule biosynthesis|regulation of cellular macromolecule formation|regulation of cellular biopolymer biosynthetic process owl:Class MONDO:0012044 biolink:NamedThing corneal dystrophy, lattice type 3A Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically. tmpak2llvmy_mondo_relaxed.owl lattice corneal dystrophy type 3A|CDL3A|lattice corneal dystrophy type III A|lattice corneal dystrophy, type 3A|corneal dystrophy, lattice type IIIA UMLS:C1837974|MESH:C563923|GARD:0010320|OMIM:608471 https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a owl:Class MONDO:0000764 biolink:NamedThing epithelial-stromal TGFBI dystrophy Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene. tmpak2llvmy_mondo_relaxed.owl TGFBI corneal dystrophy (disease)|corneal dystrophy (disease) caused by mutation in TGFBI DOID:0060441 owl:Class ECTO:0000530 biolink:NamedThing exposure to pesticide An exposure to pesticide. tmpak2llvmy_mondo_relaxed.owl exposure to pesticide owl:Class MONDO:0020093 biolink:NamedThing autosomal dominant isolated diffuse palmoplantar keratoderma Autosomal dominant form of isolated diffuse palmoplantar keratoderma. tmpak2llvmy_mondo_relaxed.owl isolated diffuse palmoplantar keratoderma, autosomal dominant|autosomal dominant isolated diffuse palmoplantar hyperkeratosis ICD10:Q82.8|Orphanet:98349|UMLS:CN229268 owl:Class MONDO:0000426 biolink:NamedThing autosomal dominant disease Autosomal dominant form of disease. tmpak2llvmy_mondo_relaxed.owl autosomal dominant inherited disorder|autosomal dominant hereditary disorder|autosomal dominant disease or disorder|disease or disorder, autosomal dominant|disease, autosomal dominant SCTID:11164009|ICD9:758.5|DOID:0050736|UMLS:C0265385 owl:Class UBERON:0001145 biolink:NamedThing ovarian vein A vein that carries deoxygenated blood from its corresponding ovary to inferior vena cava or one of its tributaries. tmpak2llvmy_mondo_relaxed.owl vein of female reproductive system gonada|gonad of female reproductive system vein|female reproductive system gonada vein|gonada of female reproductive system vein|vein of gonad of female reproductive system|vena ovarica dextra|female reproductive system gonad vein|ovary vein|vena ovarica sinistra|vein of ovary|vein of gonada of female reproductive system|vein of female reproductive system gonad owl:Class UBERON:0015212 biolink:NamedThing lateral structure Any structure that is placed on one side of the left-right axis of a bilaterian. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003874 biolink:NamedThing ovarian serous surface papillary adenocarcinoma A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern. tmpak2llvmy_mondo_relaxed.owl ovary papillary carcinoma|serous surface papillary carcinoma of ovary|serous surface papillary carcinoma of the ovary|ovarian serous surface papillary adenocarcinoma DOID:6408|UMLS:C1335178|NCIT:C6256 owl:Class MONDO:0002512 biolink:NamedThing papillary adenocarcinoma A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl infiltrating and papillary adenocarcinoma|adenocarcinoma, papillary, malignant|infiltrating papillary adenocarcinoma|papillary adenocarcinoma NOS (morphologic abnormality)|papillary adenocarcinoma|papillary adenocarcinoma (morphologic abnormality) DOID:3112|UMLS:C0001420|ICDO:8260/3|UMLS:C1321863|NCIT:C2853|MESH:D000231 owl:Class MONDO:0017606 biolink:NamedThing facial nerve palsy due to herpes zoster infection tmpak2llvmy_mondo_relaxed.owl Hunt's syndrome (formerly)|Ramsay Hunt syndrome type 2 (formerly)|facial nerve palsy due to VZV|Hunt syndrome (formerly)|Ramsay Hunt syndrome|facial nerve paralysis due to VZV Orphanet:3020|ICD10:B02.2+|ICD10:G53.0*|GARD:0007525 owl:Class MONDO:0016104 biolink:NamedThing infectious disease with peripheral neuropathy An infectious process affecting the peripheral nerves. tmpak2llvmy_mondo_relaxed.owl peripheral nerve infection|peripheral nervous system infectious disorder 2022-03-01 NCIT:C27589|Orphanet:206613|UMLS:C1278821 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: infectious disease' MONDO_0005550 owl:Class PATO:0000025 biolink:NamedThing composition A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. tmpak2llvmy_mondo_relaxed.owl composed of|content|structure, composition|compositionality owl:Class PATO:0000141 biolink:NamedThing structure A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. tmpak2llvmy_mondo_relaxed.owl relational structural quality|conformation owl:Class UBERON:0004182 biolink:NamedThing mammary gland cord The solid cord of epithelial cells that emerges from the mammary bud and grows down from the primary mammary mesenchyme and into a second stromal compartment, the fat pad precursor, beneath the dermis. tmpak2llvmy_mondo_relaxed.owl lactiferous gland cord|mammary sprout|mammary cord owl:Class UBERON:0034969 biolink:NamedThing epithelial layer of duct tmpak2llvmy_mondo_relaxed.owl duct epithelium|ductal epithelium owl:Class GO:0006879 biolink:NamedThing cellular iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. tmpak2llvmy_mondo_relaxed.owl iron homeostasis owl:Class GO:0055072 biolink:NamedThing iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell. tmpak2llvmy_mondo_relaxed.owl iron homeostasis owl:Class MONDO:0018791 biolink:NamedThing Moyomoya angiopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:477768 owl:Class MONDO:0020676 biolink:NamedThing disease of central nervous system or retinal vasculature tmpak2llvmy_mondo_relaxed.owl retina/CNS vascular disease|central nervous system or retinal vascular disease Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease owl:Class MONDO:0008753 biolink:NamedThing alkaptonuria Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). tmpak2llvmy_mondo_relaxed.owl alcaptonuria|homogentisic acid oxidase deficiency|alkaptonuria|deficiency of homogentisicase|aku|homogentisate 1,2-dioxygenase deficiency|ochronosis, hereditary|hereditary ochronosis|alkaptonuric ochronosis|homogentisic acidura SCTID:360378009|OMIM:203500|ICD9:270.2|NCIT:C84546|UMLS:C0002066|MESH:D000474|MedDRA:10001689|ICD10:E70.29|DOID:9270|UMLS:C2931645|GARD:0005775|Orphanet:56|ICD10:E70.2 https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria owl:Class MONDO:0020203 biolink:NamedThing pigmented conjunctival lesion tmpak2llvmy_mondo_relaxed.owl Orphanet:98615 owl:Class MONDO:0015177 biolink:NamedThing metaphyseal anadysplasia Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. tmpak2llvmy_mondo_relaxed.owl early-onset regressive form of metaphyseal dysplasia|Maroteaux Verloes Stanescu syndrome|Maroteaux-Verloes-Stanescu syndrome|MAD|regressive metaphyseal dysplasia ICD9:756.9|SCTID:254085009|ICD10:Q78.5|UMLS:C0432226|GARD:0003562|MESH:C537351|Orphanet:1040 https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia owl:Class MONDO:0019693 biolink:NamedThing multiple metaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl ICD10:Q78.5|Orphanet:93430 owl:Class MONDO:0040677 biolink:NamedThing invasive carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. tmpak2llvmy_mondo_relaxed.owl invasive carcinoma UMLS:C1334274|NCIT:C9480 owl:Class MONDO:0004993 biolink:NamedThing carcinoma A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. tmpak2llvmy_mondo_relaxed.owl epithelioma|carcinoma, malignant|malignant epithelial tumor|carcinoma|malignant epithelioma|Other carcinoma|malignant epithelial neoplasm|epithelial carcinoma|epithelioma malignant SCTID:722688002|EFO:0000313|NCIT:C2916|UMLS:C0007097|CSP:2000-1867|MESH:D002277|ICDO:8011/3|DOID:305|ICDO:8010/3 owl:Class MONDO:0006652 biolink:NamedThing anterolateral myocardial infarction Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. tmpak2llvmy_mondo_relaxed.owl myocardial infarction, anterolateral|myocardial infarctions, anteroseptal|myocardial infarctions, anterolateral|infarction, anterolateral myocardial|infarctions, anteroseptal myocardial|myocardial infarction, anteroseptal|myocardial infarction, anterior wall|anteroseptal myocardial infarctions|anteroseptal myocardial infarction|anterolateral myocardial infarction|acute anterior wall myocardial infarction|infarction, anteroseptal myocardial|anterolateral myocardial infarctions|infarctions, anterolateral myocardial EFO:1000812|MESH:D056988|DOID:5845|MedDRA:10068109|UMLS:C0262564 Editor note: todo - create uberon class owl:Class MONDO:0005068 biolink:NamedThing myocardial infarction Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. tmpak2llvmy_mondo_relaxed.owl myocardial infarction (disease)|myocardial infarction|myocardial infarction, (MI)|myocardial infarct|MI|infarction (MI), myocardial|heart attack|MI, myocardial infarction myocardial infarction (disease) UMLS:C0027051|MESH:D009203|SCTID:22298006|EFO:0000612|DOID:5844|ICD10:I21|HP:0001658|NCIT:C27996|ICD10:I22 owl:Class MONDO:0000978 biolink:NamedThing extrahepatic bile duct lipoma A rare benign adipose tissue neoplasm of the extrahepatic bile duct. tmpak2llvmy_mondo_relaxed.owl extrahepatic bile duct lipoma|lipoma of extrahepatic bile duct|lipoma of the extrahepatic bile duct NCIT:C5854|UMLS:C1333509|DOID:10209 owl:Class MONDO:0000965 biolink:NamedThing liver lipoma A rare benign adipose tissue neoplasm of the liver. tmpak2llvmy_mondo_relaxed.owl lipoma of liver|hepatic lipoma|lipoma of the liver|liver lipoma UMLS:C1333970|NCIT:C5750|DOID:10190 owl:Class MONDO:0001714 biolink:NamedThing bejel A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum. tmpak2llvmy_mondo_relaxed.owl Treponema pallidum subsp. endemicum infectious disease|endemic syphilis|nonvenereal syphilis|Treponema pallidum subsp. endemicum caused disease or disorder|Njovera|Treponema pallidum subsp. endemicum disease or disorder|Dichuchwa|Frenga|nonvenereal endemic syphilis UMLS:C0004945|GARD:0005905|DOID:13431 https://rarediseases.info.nih.gov/diseases/5905/bejel owl:Class MONDO:0005976 biolink:NamedThing syphilis A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system. tmpak2llvmy_mondo_relaxed.owl Treponema pallidum caused disease or disorder|Treponema pallidum disease or disorder|syphilitic chancre|Treponema pallidum infectious disease MedDRA:10062120|MESH:D013587|ICD10:A51.0|SCTID:76272004|NCIT:C35055|ICD9:097.9|DOID:4166|EFO:0007504 owl:Class HP:0025276 biolink:NamedThing Abnormality of skin adnexa physiology Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. tmpak2llvmy_mondo_relaxed.owl 2016-12-18 14:51:16+00:00 HPO:probinson human_phenotype owl:Class HP:0001574 biolink:NamedThing Abnormality of the integument An abnormality of the integument, which consists of the skin and the superficial fascia. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025761 Abnormality of skin, hair, or nails. human_phenotype owl:Class GO:0022618 biolink:NamedThing ribonucleoprotein complex assembly The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. tmpak2llvmy_mondo_relaxed.owl RNA-protein complex assembly|protein-RNA complex assembly|RNP complex assembly owl:Class GO:0071826 biolink:NamedThing ribonucleoprotein complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. tmpak2llvmy_mondo_relaxed.owl protein-RNA complex subunit organization|ribonucleoprotein complex subunit organisation|RNA-protein complex subunit organization owl:Class MONDO:0014606 biolink:NamedThing intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation). tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant type 37|intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|WHSUS|White-Sutton syndrome|MRD37|autosomal dominant mental retardation 37|intellectual disability, autosomal dominant 37|autosomal dominant intellectual disability 37|mental retardation, autosomal dominant type 37|mental retardation, autosomal dominant 37|WHITE-Sutton syndrome OMIM:616364|Orphanet:468678|EFO:0009079|DOID:0070067 owl:Class MONDO:0100172 biolink:NamedThing intellectual disability, autosomal dominant tmpak2llvmy_mondo_relaxed.owl autosomal dominant intellectual disability|mental retardation, autosomal dominant OMIMPS:156200 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0045597 biolink:NamedThing positive regulation of cell differentiation Any process that activates or increases the frequency, rate or extent of cell differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of cell differentiation|activation of cell differentiation|upregulation of cell differentiation|stimulation of cell differentiation|up-regulation of cell differentiation owl:Class GO:0048522 biolink:NamedThing positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular physiological process|activation of cellular process|up regulation of cellular process|stimulation of cellular process|up-regulation of cellular process|upregulation of cellular process owl:Class FOODON:03400217 biolink:NamedThing meat, poultry, seafood or related product (us cfr) Products of the flesh of animals. [FDA CFSAN 1995] tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0217 http://langual.org owl:Class FOODON:03401270 biolink:NamedThing U.S. code of federal regulations, title 21 food product type Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A1270 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org https://www.ecfr.gov/cgi-bin/text-idx?SID=87f720ce0d0b6c4548f4bbfd1f8e4c3d&mc=true&tpl=/ecfrbrowse/Title21/21chapterI.tpl owl:Class GO:1900016 biolink:NamedThing negative regulation of cytokine production involved in inflammatory response Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. tmpak2llvmy_mondo_relaxed.owl negative regulation of cytokine production involved in acute inflammatory response|down regulation of cytokine production involved in inflammatory response|down regulation of cytokine production involved in acute inflammatory response owl:Class GO:1900015 biolink:NamedThing regulation of cytokine production involved in inflammatory response Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response. tmpak2llvmy_mondo_relaxed.owl regulation of cytokine production involved in acute inflammatory response owl:Class MONDO:0004934 biolink:NamedThing periostitis Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl periostitis (disease)|periostitis|periosteum inflammation|inflammation of periosteum|periosteum periostitis (disease) MESH:D010522|SCTID:41910004|HP:0040165|NCIT:C13184|DOID:9957|UMLS:C0031111 owl:Class MONDO:0007258 biolink:NamedThing canine teeth, absence of upper permanent tmpak2llvmy_mondo_relaxed.owl canine teeth, absence of upper permanent UMLS:C1861899|OMIM:114600 owl:Class UBERON:0005283 biolink:NamedThing tela choroidea A structure found in the walls of the ventricles of the brain, consisting of part of the meninges (pia mater in mammals) plus ependyma[cjm]. tmpak2llvmy_mondo_relaxed.owl tela chorioidea owl:Class UBERON:0004923 biolink:NamedThing organ component layer A part of a wall of an organ that forms a layer. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009738 biolink:NamedThing sialidosis type 2 Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. tmpak2llvmy_mondo_relaxed.owl sialidase deficiency|sialidosis, type 2|ML 1|sialidosis, type 1|nephrosialidosis|dysmorphic sialidosis with renal involvement|myoclonus--cherry Red spot syndrome|sialidosis caused by mutation in NEU1|infantile dysmorphic sialidosis|sialidosis|Neug deficiency|mucolipidosis 1|mucolipidosis type I|ML1|NEU 1 deficiency|glycoprotein neuraminidase deficiency|neuraminidase deficiency|Neu deficiency|sialidosis type II|dysmorphic sialidosis|NEU1 sialidosis|sialidosis, type II|glycoproteinosis|mucolipidosis I|Neu1 deficiency|lipomucopolysaccharidosis|mucolipidosis type 1|cherry Red spot--myoclonus syndrome|neuraminidase 1 deficiency GARD:0007183|SCTID:81896006|ICD10:E77.1|NCIT:C125596|UMLS:C3888317|MESH:C562606|UMLS:C0268232|OMIM:256150|UMLS:CN206285|Orphanet:87876|SCTID:52186006|DOID:3343|OMIM:256550 See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 owl:Class MONDO:0020280 biolink:NamedThing metabolic disease with cataract tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98712|UMLS:CN207083 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class GO:0045940 biolink:NamedThing positive regulation of steroid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpak2llvmy_mondo_relaxed.owl stimulation of steroid metabolic process|up regulation of steroid metabolic process|up-regulation of steroid metabolic process|activation of steroid metabolic process|positive regulation of steroid metabolism|upregulation of steroid metabolic process owl:Class GO:0019218 biolink:NamedThing regulation of steroid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpak2llvmy_mondo_relaxed.owl regulation of steroid metabolism owl:Class UBERON:0004951 biolink:NamedThing submucosa of segmental bronchus A submucosa that is part of a segmental bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of tertiary bronchus|segmental bronchial submucosa|tertiary bronchus submucosa|segmental bronchus submucosa owl:Class UBERON:0001957 biolink:NamedThing submucosa of bronchus A submucosa that is part of a bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchial trunk submucosa|submucous layer of bronchi|bronchial submucosa|bronchus submucosa|bronchi submucosa|submucosa of bronchial trunk|tela submucosa bronchi|submucosa of bronchi owl:Class MONDO:0016969 biolink:NamedThing partial duplication of the long arm of chromosome 19 tmpak2llvmy_mondo_relaxed.owl partial duplication of the long arm of chromosome type 19|trisomy 19q|partial duplication of chromosome 19q|partial trisomy 19q|partial trisomy of chromosome 19q|chromosome 19q duplication|partial trisomy of the long arm of chromosome 19|19q duplication|19q trisomy|Duplication 19q UMLS:C0795871|MESH:C538311|GARD:0005326|Orphanet:262986 owl:Class MONDO:0016937 biolink:NamedThing partial duplication of chromosome 19 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome type 19|partial trisomy of chromosome 19 Orphanet:262687|SCTID:726358004 owl:Class GO:0033003 biolink:NamedThing regulation of mast cell activation Any process that modulates the frequency, rate, or extent of mast cell activation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002694 biolink:NamedThing regulation of leukocyte activation Any process that modulates the frequency, rate, or extent of leukocyte activation. tmpak2llvmy_mondo_relaxed.owl regulation of leucocyte activation|regulation of immune cell activation owl:Class UBERON:0018408 biolink:NamedThing infra-orbital nerve A branch of the maxillary nerve that enters the infraorbital canal and innervates the lower eyelid, upper lip, the nasal vestibule, the upper incisors, canines, premolars, upper gums, lower eyelid and conjunctiva, and part of the nose. tmpak2llvmy_mondo_relaxed.owl infraorbital nerve|infra-orbital nerve|infraorbital portion owl:Class UBERON:0011779 biolink:NamedThing nerve of head region A nerve that is part of a head. tmpak2llvmy_mondo_relaxed.owl cephalic nerve|head nerve owl:Class HGNC:6891 biolink:NamedThing MAPRE2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005538 biolink:NamedThing proctitis An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. tmpak2llvmy_mondo_relaxed.owl anus inflammation|inflammation of anus|rectitis ICD9:569.49|SCTID:3951002|DOID:3127|MESH:D011349|UMLS:C0033246|EFO:0005628|ICD10:K62.89|NCIT:C38011 owl:Class UBERON:0004727 biolink:NamedThing cochlear nerve A nerve in the head that carries signals from the cochlea of the inner ear to the brain. It is part of the vestibulocochlear nerve, the 8th cranial nerve which is found in higher vertebrates; the other portion of the 8th cranial nerve is the vestibular nerve which carries spatial orientation information from the semicircular canals. The cochlear nerve is a sensory nerve, one which conducts to the brain information about the environment, in this case acoustic energy impinging on the tympanic membrane. The cochlear nerve arises from within the cochlea and extends to the brainstem, where its fibers make contact with the cochlear nucleus, the next stage of neural processing in the auditory system[WP]. tmpak2llvmy_mondo_relaxed.owl cochlear root of acoustic nerve|vestibulocochlear nerve cochlear component|nervus vestibulocochlearis|vestibulocochlear VIII nerve cochlear component|cochlear root of eighth cranial nerve|auditory nerve|cochlear component owl:Class OBO:CARO_0001001 biolink:NamedThing neuron projection bundle tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002672 biolink:NamedThing acinar prostate adenocarcinoma, signet ring variant A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells. tmpak2llvmy_mondo_relaxed.owl signet Ring cell carcinoma of prostate|acinar prostate adenocarcinoma, signet Ring variant|prostate signet ring cell carcinoma|prostate gland signet ring cell carcinoma|prostate signet ring cell adenocarcinoma|prostate signet Ring cell carcinoma|signet Ring cell carcinoma of the prostate NCIT:C5535|DOID:3504|UMLS:C1335520 owl:Class MONDO:0005092 biolink:NamedThing signet ring cell carcinoma A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland. tmpak2llvmy_mondo_relaxed.owl signet ring cell adenocarcinoma|signet ring carcinoma NOS (morphologic abnormality)|signet ring cell carcinoma (morphologic abnormality)|signet ring carcinoma|signet ring cell carcinoma EFO:0000698|DOID:3493|ICDO:8490/3|NCIT:C3774|UMLS:C0206696|MESH:D018279 owl:Class MONDO:0004193 biolink:NamedThing pediatric ovarian dysgerminoma A dysgerminoma that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl pediatric dysgerminoma of ovary|dysgerminoma of ovary of childhood|childhood ovarian dysgerminoma|childhood dysgerminoma|childhood ovarian germinomatous germ cell tumor|childhood dysgerminoma of ovary NCIT:C6550|DOID:7340|UMLS:C1332988 owl:Class MONDO:0003760 biolink:NamedThing pediatric ovarian germ cell tumor A germ cell tumor that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl ovarian germ cell tumor|childhood ovarian germ cell neoplasm|pediatric ovarian germ cell neoplasm|childhood ovarian germ cell tumor|pediatric ovarian germ cell tumor|ovarian germ cell tumor of childhood DOID:6084|UMLS:C0796664|NCIT:C8588 owl:Class MONDO:0042604 biolink:NamedThing Sandhaus-Ben-Ami syndrome tmpak2llvmy_mondo_relaxed.owl Sandhaus Ben-Ami syndrome|patella hypoplasia skeletal malformations MESH:C537233|GARD:0000154|UMLS:C2931451 owl:Class CL:0000447 biolink:NamedThing carbohydrate secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000151 biolink:NamedThing secretory cell A cell that specializes in controlled release of one or more substances. tmpak2llvmy_mondo_relaxed.owl FMA:86916|BTO:0003659 cell owl:Class MONDO:0010623 biolink:NamedThing ichthyosis and male hypogonadism tmpak2llvmy_mondo_relaxed.owl Ruds|ichthyosis and male hypogonadism|rud syndrome|Ichthyosis-male hypogonadism syndrome GARD:0009612|Orphanet:431|UMLS:C1839989|SCTID:2355008|ICD9:759.89|OMIM:308200 owl:Class UBERON:0004571 biolink:NamedThing systemic arterial system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. tmpak2llvmy_mondo_relaxed.owl systemic arterial circulatory system owl:Class UBERON:0007798 biolink:NamedThing vascular system Anatomical system that consists of all blood and lymph vessels. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012847 biolink:NamedThing autosomal recessive congenital ichthyosis 6 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive congenital ichthyosis type 6|ichthyosis, congenital, autosomal recessive, Nipal4-related|ichthyosis, congenital, autosomal recessive 6|ARCI6|ichthyosis, congenital, autosomal recessive type 6 DOID:0060715|UMLS:C2677065|OMIM:612281|ICD10:Q80.2 owl:Class MONDO:0017778 biolink:NamedThing lamellar ichthyosis Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. tmpak2llvmy_mondo_relaxed.owl congenital lamellar ichthyosis|LI|classic lamellar ichthyosis GARD:0010803|ICD10:Q80.2|Orphanet:313|MedDRA:10023686|NCIT:C84805 owl:Class CHEBI:33673 biolink:NamedThing zinc group molecular entity tmpak2llvmy_mondo_relaxed.owl zinc group molecular entities owl:Class CHEBI:33676 biolink:NamedThing d-block molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. tmpak2llvmy_mondo_relaxed.owl d-block molecular entity|d-block molecular entities|d-block compounds owl:Class UBERON:0012429 biolink:NamedThing hematopoietic tissue Blood-forming tissue, consisting of reticular fibers and cells. tmpak2llvmy_mondo_relaxed.owl hemopoietic tissue|textus haemopoieticus|bone marrow tissue|hematopoietic tissue|haemopoietic tissue owl:Class UBERON:0034769 biolink:NamedThing lymphomyeloid tissue tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014757 biolink:NamedThing macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome tmpak2llvmy_mondo_relaxed.owl TKS|Takenouchi-Kosaki syndrome|macrothrombocytopenia and mental retardation syndrome|macrothrombocytopenia and intellectual disability syndrome|TAKENOUCHI-Kosaki syndrome OMIM:616737|Orphanet:487796|UMLS:C4225222 owl:Class MONDO:0009517 biolink:NamedThing Donohue syndrome Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation. tmpak2llvmy_mondo_relaxed.owl Donohue syndrome|leprechaunism|insulin receptor, defect 1N DOID:0050470|GARD:0006885|SCTID:111307005|MESH:D056731|NCIT:C84676|OMIM:246200|Orphanet:508|ICD9:259.8|UMLS:C0265344|ICD10:E34.8 owl:Class MONDO:0006025 biolink:NamedThing autosomal recessive disease Autosomal recessive form of disease. tmpak2llvmy_mondo_relaxed.owl disease or disorder, autosomal recessive|disease, autosomal recessive|recessive hereditary disorder (autosomal)|autosomal recessive disease or disorder|autosomal recessive hereditary disorder|autosomal recessive inherited disorder|autosomal recessive inherited disease|autosomal recessive hereditary disease SCTID:85995004|UMLS:C0265388|ICD9:758.5|EFO:1000017|DOID:0050737 owl:Class UBERON:0005020 biolink:NamedThing mucosa of tongue A mucosa that is part of a tongue [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tunica mucosa linguae|organ mucosa of tongue|tongue mucosa of organ|tongue mucosa|lingual mucosa|tongue mucous membrane|tongue organ mucosa|mucous membrane of tongue|mucosa of organ of tongue owl:Class UBERON:0003729 biolink:NamedThing mouth mucosa A mucous membrane that lines the mouth. tmpak2llvmy_mondo_relaxed.owl mouth mucosa|mouth organ mucosa|tunica mucosa oris|oral mucous membrane|mucous membrane of mouth|oral mucosa|oral part of viscerocranial mucosa|buccal mucosa|mucosal lining of mouth|mucosa of mouth|mouth mucous membrane owl:Class GO:0042304 biolink:NamedThing regulation of fatty acid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. tmpak2llvmy_mondo_relaxed.owl regulation of fatty acid synthesis|regulation of fatty acid biosynthesis|regulation of fatty acid formation|regulation of fatty acid anabolism owl:Class MONDO:0043008 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)|genetic MCA|hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability Orphanet:330206 owl:Class HGNC:13254 biolink:NamedThing FTSJ1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014049 biolink:NamedThing positive regulation of glutamate secretion Any process that activates or increases the frequency, rate or extent of the controlled release of glutamate. tmpak2llvmy_mondo_relaxed.owl activation of glutamate secretion|stimulation of glutamate secretion|up regulation of glutamate secretion|up-regulation of glutamate secretion|upregulation of glutamate secretion owl:Class MONDO:0012738 biolink:NamedThing long QT syndrome 11 Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene. tmpak2llvmy_mondo_relaxed.owl long QT syndrome type 11|long QT syndrome caused by mutation in AKAP9|AKAP9 long QT syndrome|long QT syndrome 11|LQT11 MESH:C567513|OMIM:611820|GARD:0010437|UMLS:C2678483|ICD10:I45.8|DOID:0110652 https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11 owl:Class MONDO:0019171 biolink:NamedThing familial long QT syndrome A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. tmpak2llvmy_mondo_relaxed.owl familial long QT syndrome|LQTS|congenital long QT syndrome|Romano-Ward syndrome|Romano-Ward long QT syndrome|hereditary long QT syndrome|Ward-Romano syndrome SCTID:442917000|OMIMPS:192500|UMLS:C0035828|ICD10:I45.8|UMLS:C1141890|Orphanet:768|MedDRA:10057926 owl:Class CHEBI:35186 biolink:NamedThing terpene A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]. tmpak2llvmy_mondo_relaxed.owl terpenos|Terpen|terpenes|terpeno|terpene owl:Class CHEBI:24632 biolink:NamedThing hydrocarbon A compound consisting of carbon and hydrogen only. tmpak2llvmy_mondo_relaxed.owl Kohlenwasserstoffe|hidrocarburo|hydrocarbure|hydrocarbon|hidrocarburos|Kohlenwasserstoff|hydrocarbons owl:Class MONDO:0043209 biolink:NamedThing albinism A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. tmpak2llvmy_mondo_relaxed.owl albinism GARD:0005768|UMLS:C0001916|SCTID:15890002|NCIT:C84543|MESH:D000417|ICD10:E70.3 This groups multiple types, including those restricted to the eyes, the skin or both owl:Class MONDO:0004736 biolink:NamedThing inherited amino acid metabolic disorder An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. tmpak2llvmy_mondo_relaxed.owl inborn error of amino acid metabolism|rare inborn error of cellular amino acid metabolic process|inborn error of cellular amino acid metabolic process|amino acid metabolic disorder|amino acid metabolism, inborn errors|inborn amino acid metabolism disorder|inborn cellular amino acid metabolic process disorder|inborn errors of amino acid metabolism ICD9:270|MESH:D000592|ICD10:E72.9|SCTID:42930003|GARD:0006770|ICD9:270.9|DOID:9252 owl:Class MONDO:0100249 biolink:NamedThing 46,XX testicular disorder of sex development 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. tmpak2llvmy_mondo_relaxed.owl XX Male, Sry-positive|46,XX testicular DSD|46,XX testicular disorders of Sex development|46,XX testicular disorder of sex development|XX, male syndrome|De la Chapelle syndrome|46,XX testicular differences of sex development|46, XX gonadal sex reversal|XX male syndrome|XX sex reversal DOID:0111760|NCIT:C127170|GARD:0000399|UMLS:C2936419|ICD10:Q99.1|UMLS:CN205000|MESH:D058531|Orphanet:393 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020090 biolink:NamedThing male infertility due to gonadal dysgenesis tmpak2llvmy_mondo_relaxed.owl Male infertility due to testicular dysgenesis 2022-03-01 Orphanet:98313 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0015611 biolink:NamedThing neutral lipid storage disease Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. tmpak2llvmy_mondo_relaxed.owl Chanarin-Dorfman syndrome|lipidosis with triglyceride storage disease|lipidosis with triglycerid storage disease GARD:0003262|UMLS:CN199983|Orphanet:165|ICD10:E75.5|DOID:0050729 Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype. owl:Class MONDO:0019245 biolink:NamedThing lysosomal lipid storage disorder An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. tmpak2llvmy_mondo_relaxed.owl lipoid storage diseas|lipoidosis|rare inborn error of lipid storage|lipidoses|inborn lipid storage disorder|lipoidoses|lipoid storage disease|lipoid storage disorder|lipid storage disease|inborn error of lipid storage|lipidosis Orphanet:79204|DOID:9455|MESH:D008064|ICD9:272.8|UMLS:CN205834|SCTID:10741005|ICD9:272.7|ICD10:E75.5|ICD10:E75.6 owl:Class GO:0051246 biolink:NamedThing regulation of protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein. tmpak2llvmy_mondo_relaxed.owl regulation of protein metabolism owl:Class GO:0080090 biolink:NamedThing regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019169 biolink:NamedThing pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase deficiency|PDH|PDHC|pyruvate dehydrogenase complex deficiency disease|pyruvate decarboxylase deficiency|pyruvate dehydrogenase complex deficiency|deficiency of pyruvic dehydrogenase SCTID:46683007|GARD:0007513|OMIMPS:312170|NCIT:C103968|EFO:0007459|DOID:3649|ICD9:277.89|ICD10:E74.4|Orphanet:765 owl:Class MONDO:0016403 biolink:NamedThing mitochondrial disease with peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201332|Orphanet:225703 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class UBERON:0004387 biolink:NamedThing epiphysis of phalanx of manus An epiphysis that is part of a phalanx of a manus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epiphysis of phalanx of finger|epiphysis of phalanx of hand owl:Class UBERON:0004446 biolink:NamedThing epiphysis of phalanx An epiphysis that is part of a phalanx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045605 biolink:NamedThing negative regulation of epidermal cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of epidermal cell differentiation|down regulation of epidermal cell differentiation|negative regulation of hypodermal cell differentiation|inhibition of epidermal cell differentiation|down-regulation of epidermal cell differentiation owl:Class GO:0030857 biolink:NamedThing negative regulation of epithelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation. tmpak2llvmy_mondo_relaxed.owl down regulation of epithelial cell differentiation|inhibition of epithelial cell differentiation|downregulation of epithelial cell differentiation|down-regulation of epithelial cell differentiation owl:Class MONDO:0015783 biolink:NamedThing Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.1|Orphanet:177901|UMLS:CN200365 owl:Class MONDO:0020301 biolink:NamedThing Prader-Willi syndrome due to paternal 15q11q13 deletion tmpak2llvmy_mondo_relaxed.owl Orphanet:98793|UMLS:CN207115|ICD10:Q87.1 owl:Class MONDO:0007054 biolink:NamedThing acromial dimples tmpak2llvmy_mondo_relaxed.owl supraspinous fossae, congenital|acromial dimples OMIM:102350|UMLS:C1863321 owl:Class MONDO:0015691 biolink:NamedThing hypereosinophilic syndrome Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. tmpak2llvmy_mondo_relaxed.owl hypereosinophilic disease|eosinophilia|HES|eosinophilic leukocytosis|hypereosinophilic syndrome|hypereosinophilic disorder NCIT:C27038|MESH:D017681|SCTID:419455006|ICD9:288.3|DOID:999|GARD:0002804|ICD10:D47.5|ICD10:D72.1|Orphanet:168956|UMLS:C1540912|ICDO:9964/3|EFO:1001467|MedDRA:10048643 owl:Class MONDO:0044972 biolink:NamedThing eosinophil disease A disease or disorder that involves the eosinophil. tmpak2llvmy_mondo_relaxed.owl disease of eosinophil|disorder of eosinophil|disease or disorder of eosinophil|eosinophil disease or disorder SCTID:417967008|UMLS:C1691020 owl:Class GO:0015693 biolink:NamedThing magnesium ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl magnesium transport owl:Class GO:0030001 biolink:NamedThing metal ion transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl heavy metal ion transport|divalent metal ion transport owl:Class CL:0000748 biolink:NamedThing retinal bipolar neuron A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner plexiform layer. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0008028 biolink:NamedThing visual system neuron tmpak2llvmy_mondo_relaxed.owl dos 2017-07-09 19:12:36+00:00 owl:Class PATO:0002097 biolink:NamedThing neoplastic, malignant A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002011 biolink:NamedThing neoplastic A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. tmpak2llvmy_mondo_relaxed.owl tumorous owl:Class ENVO:01001226 biolink:NamedThing terrestrial natural environment A natural environment which is located on a land mass. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000951 biolink:NamedThing natural environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012080 biolink:NamedThing patella cartilage element A cartilaginous condensation that has the potential to develop into a patella. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005863 biolink:NamedThing cartilaginous condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. tmpak2llvmy_mondo_relaxed.owl cartilage condensation|chondrogenic condensation|cartilagenous condensation owl:Class GO:0048666 biolink:NamedThing neuron development The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048468 biolink:NamedThing cell development The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpak2llvmy_mondo_relaxed.owl terminal differentiation owl:Class GO:0060457 biolink:NamedThing negative regulation of digestive system process Any process that decreases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:35500 biolink:NamedThing Pecora tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9845 biolink:NamedThing Ruminantia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010313 biolink:NamedThing neural crest-derived structure An anatomical structure that develops from the neural crest. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000061 biolink:NamedThing anatomical structure Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. tmpak2llvmy_mondo_relaxed.owl connected biological structure|biological structure owl:Class UBERON:0004641 biolink:NamedThing spleen capsule the connective tissue that surrounds the spleen tmpak2llvmy_mondo_relaxed.owl capsule of spleen|fibrous capsule of spleen|Malpighian capsule|tunica fibrosa (splen)(lien)|tunica fibrosa splenica|splenic capsule|capsula splenica|fibroelastic coat of spleen owl:Class HGNC:29160 biolink:NamedThing FASTKD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007712 biolink:NamedThing oculoauriculovertebral spectrum with radial defects Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. tmpak2llvmy_mondo_relaxed.owl Moeschler-Clarren syndrome|hemifacial microsomia-radial defects syndrome|hemifacial microsomia with radial defects|Moeschler Clarren syndrome|oculoauriculovertebral spectrum with radial defect|microsomia hemifacial radial defects|Goldenhar syndrome with ipsilateral radial defect|Oavs with radial defect SCTID:726722009|Orphanet:2549|ICD10:Q75.8|OMIM:141400|GARD:0003653 owl:Class MONDO:0018454 biolink:NamedThing dysostosis of genetic origin An instance of dysostosis that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic dysostosis Orphanet:404568 owl:Class MONDO:0019962 biolink:NamedThing thyroid lymphoma A lymphoma primarily involving the thyroid gland. tmpak2llvmy_mondo_relaxed.owl lymphoma of thyroid|lymphoma of the thyroid gland|lymphoma of thyroid gland|primary thyroid gland lymphoma|lymphoma of the thyroid|thyroid lymphoma|thyroid gland lymphoma DOID:10011|UMLS:C1336753|NCIT:C5265|ICD10:C85.7|Orphanet:97285 owl:Class MONDO:0017207 biolink:NamedThing primary organ-specific lymphoma tmpak2llvmy_mondo_relaxed.owl UMLS:C1334465|NCIT:C7185|Orphanet:279911 owl:Class MONDO:0014620 biolink:NamedThing myoclonic dystonia 26 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene. tmpak2llvmy_mondo_relaxed.owl myoclonic dystonia type 26|dystonia 26, myoclonic|DYT26|KCTD17 myoclonus-dystonia syndrome|myoclonus-dystonia syndrome caused by mutation in KCTD17 UMLS:C4225341|OMIM:616398|DOID:0090036 owl:Class MONDO:0000903 biolink:NamedThing myoclonus-dystonia syndrome Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. tmpak2llvmy_mondo_relaxed.owl dystonia 11, myoclonic|hereditary essential myoclonus|myoclonus-Dystonia|myoclonus, hereditary essential|dystonia 11|myoclonic dystonia|dystonia-11, myoclonic|dystonia, alcohol responsive|DYT-SGCE|DYT11|myoclonus-dystonia|dystonia, alcohol-responsive|alcohol-responsive dystonia|Hereditary essential myoclonus|myoclonus-dystonia syndrome|dystonia with myoclonus Orphanet:36899|GARD:0007139|DOID:0090033|SCTID:439732004|UMLS:C1834570|ICD9:333.99|ICD10:G24.1|MESH:C536096 owl:Class MONDO:0006803 biolink:NamedThing inferior myocardial infarction Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. tmpak2llvmy_mondo_relaxed.owl MESH:D056989|UMLS:C0340305|DOID:5850|EFO:1000983|MedDRA:10057546 owl:Class MONDO:0015253 biolink:NamedThing Diamond-Blackfan anemia A congenital aregenerative and often macrocytic anemia with erythroblastopenia. tmpak2llvmy_mondo_relaxed.owl anemia Diamond Blackfan type|Diamond-Blackfan anemia|Blackfan Diamond syndrome|aregenerative anemia chronic congenital|inherited erythroblastopenia|Aase-Smith II syndrome|Aase syndrome|Blackfan - Diamond syndrome|chronic constitutional pure red cell anaemia|anemia congenital erythroid hypoplastic|congenital PRCA|Blackfan-Diamond anemia|congenital hypoplastic anemia|Red cell aplasia, pure hereditary|erythrogenesis imperfecta|DBA|congenital hypoplastic anemia, Blackfan-Diamond type|BDS|congenital pure red cell aplasia ICD10:D61.01|NCIT:C61236|UMLS:C1260899|DOID:1339|MedDRA:10062989|UMLS:C0265265|OMIMPS:105650|ICD10:D61.0|SCTID:88854002|Orphanet:124|MESH:D029503|GARD:0006274 owl:Class MONDO:0001705 biolink:NamedThing pure red-cell aplasia A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. tmpak2llvmy_mondo_relaxed.owl PRCA|pure red cell aplasia|red cell hypoplasia|primary red cell aplasia ICD9:284.81|NCIT:C34974|SCTID:50715003|DOID:1340|MESH:D012010|UMLS:C0034902|GARD:0007504 owl:Class MONDO:0024320 biolink:NamedThing inner ear neoplasm A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma. tmpak2llvmy_mondo_relaxed.owl internal ear tumor|inner Ear neoplasm|internal ear neoplasm|internal ear neoplasm (disease)|tumor of internal ear|neoplasm of internal ear|internal Ear neoplasm UMLS:C1512779|NCIT:C39784 owl:Class MONDO:0002467 biolink:NamedThing inner ear disease A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. tmpak2llvmy_mondo_relaxed.owl labyrinthine disease|internal ear disease or disorder|internal Ear disorder|internal ear disease|disease of internal ear|disease or disorder of internal ear|inner Ear disorder|vestibular disorder|disorder of internal ear DOID:2952|MESH:D007759|ICD10:H83.90|SCTID:232297009|ICD10:H80-H83|ICD10:H83.9|ICD10:H80.H83|NCIT:C27166 owl:Class GO:0043122 biolink:NamedThing regulation of I-kappaB kinase/NF-kappaB signaling Any process that modulates I-kappaB kinase/NF-kappaB signaling. tmpak2llvmy_mondo_relaxed.owl regulation of I-kappaB kinase/NF-kappaB cascade owl:Class MONDO:0002055 biolink:NamedThing benign eccrine breast spiradenoma A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells. tmpak2llvmy_mondo_relaxed.owl benign eccrine breast spiradenoma|benign eccrine spiradenoma of breast|benign breast eccrine spiradenoma|benign eccrine spiradenoma of the breast DOID:1616|NCIT:C5193|UMLS:C1332492 owl:Class MONDO:0003448 biolink:NamedThing benign spiradenoma A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported. tmpak2llvmy_mondo_relaxed.owl benign eccrine spiradenoma|eccrine spiradenoma|spiradenoma|spiroma/spiradenoma|eccrine spiradenoma (morphologic abnormality)|eccrine spiradenoma of skin DOID:5444|ICDO:8403/0|ONCOTREE:SPIR|SCTID:403938001|NCIT:C4170|GARD:0008649|UMLS:C0334347 Spiradenomas are usually benign. Malignant forms are rare. owl:Class MONDO:0024255 biolink:NamedThing genetic skin disease An instance of skin disease that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl skin disease, genetic|genodermatosis|genetic skin diseases|disease, genetic skin|diseases, genetic skin|genetic skin disease SCTID:239001006|MESH:D012873 owl:Class MONDO:0014038 biolink:NamedThing colorectal cancer, susceptibility to, 12 Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene. tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, type 12|colorectal cancer, susceptibility to, on chromosome 12Q24|colorectal cancer, susceptibility to, 12|POLE colorectal cancer|CRCS12|susceptibility to colorectal cancer 12|colorectal cancer caused by mutation in POLE OMIM:615083 owl:Class MONDO:0003356 biolink:NamedThing epithelioid leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. tmpak2llvmy_mondo_relaxed.owl epithelioid leiomyosarcoma NCIT:C3700|UMLS:C0205815|ICDO:8891/3|DOID:5264 owl:Class MONDO:0005058 biolink:NamedThing leiomyosarcoma An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma (excluding uterine leiomyosarcoma)|leiomyosarcoma|leiomyosarcoma - not uterine|Leiomyosarcomas|leiomyosarcoma, malignant GARD:0006880|EFO:0000564|ONCOTREE:LMS|ICD9:171.9|Orphanet:64720|DOID:1967|MESH:D007890|NCIT:C3158|SCTID:443719001|MedDRA:10024189|ICD10:C49.9|ICDO:8890/3|UMLS:C0023269 https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma owl:Class MONDO:0009034 biolink:NamedThing craniofacial dyssynostosis Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. tmpak2llvmy_mondo_relaxed.owl craniosynostosis-craniofacial dysostosis syndrome|bilateral lambdoid and sagittal synostosis|craniofacial dyssynostosis with short stature|craniofacial dyssynostosis and short stature Orphanet:1516|MESH:C536455|GARD:0001575|ICD10:Q87.0|UMLS:C1857511|OMIM:218350 https://rarediseases.info.nih.gov/diseases/1575/craniofacial-dyssynostosis owl:Class MONDO:0011233 biolink:NamedThing Axenfeld-Rieger syndrome type 3 Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene. tmpak2llvmy_mondo_relaxed.owl Rieger syndrome, type 3|Rieger anomaly|anterior chamber cleavage syndrome|anterior chamber Cleavage syndrome|RIEG3|Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss|Axenfeld anomaly|Rieger syndrome type 3|Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss|Axenfeld-Rieger anomaly|Axenfeld-Rieger syndrome caused by mutation in FOXC1|FOXC1 Axenfeld-Rieger syndrome|Axenfeld-Rieger syndrome type 3|Axenfeld-Rieger syndrome, type 3|Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss|anterior segment mesenchymal dysgenesis ICD10:Q13.8|SCTID:22155002|ICD9:743.44|DOID:0110122|OMIM:602482 Editor note: check relationship to MONDO:0007138 owl:Class MONDO:0019187 biolink:NamedThing Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. tmpak2llvmy_mondo_relaxed.owl anomaly, Rieger's|goniodysgenesis hypodontia|Rieger's anomaly|RGS - Rieger syndrome|Axenfeld syndrome|Axenfeldt-Rieger syndrome|iridogoniodysgenesis with somatic anomalies|Hagedoom syndrome|Rieger syndrome Orphanet:782|GARD:0005701|OMIMPS:180500|UMLS:C3495488|ICD9:743.44|MESH:C535679|NCIT:C131001|UMLS:CN776842|MedDRA:10059255|DOID:14686|SCTID:47507006|ICD10:Q13.8|ICD10:Q13.81 https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome owl:Class GO:0001675 biolink:NamedThing acrosome assembly The formation of the acrosome from the spermatid Golgi. tmpak2llvmy_mondo_relaxed.owl acrosome formation owl:Class GO:0003006 biolink:NamedThing developmental process involved in reproduction A developmental process in which a progressive change in the state of some part of an organism, germline or somatic, specifically contributes to its ability to form offspring. tmpak2llvmy_mondo_relaxed.owl reproductive developmental process|puberty owl:Class GO:1902116 biolink:NamedThing negative regulation of organelle assembly Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly. tmpak2llvmy_mondo_relaxed.owl downregulation of organelle assembly|down-regulation of organelle assembly|down regulation of organelle assembly|inhibition of organelle assembly owl:Class GO:0010639 biolink:NamedThing negative regulation of organelle organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpak2llvmy_mondo_relaxed.owl negative regulation of organelle organisation|negative regulation of organelle organization and biogenesis owl:Class MONDO:0012953 biolink:NamedThing colorectal cancer, susceptibility to, 10 Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 19Q|colorectal cancer caused by mutation in POLD1|colorectal cancer, susceptibility to, type 10|colorectal cancer, susceptibility to, 10|susceptibility to colorectal cancer 10|CRCS10|POLD1 colorectal cancer OMIM:612591 owl:Class MONDO:0015623 biolink:NamedThing cavitary myiasis Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. tmpak2llvmy_mondo_relaxed.owl SCTID:764811001|ICD10:B87.8|Orphanet:165958 owl:Class MONDO:0019147 biolink:NamedThing myiasis The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. tmpak2llvmy_mondo_relaxed.owl infestation by fly larvae|infestation by maggots|myiasis, unspecified|maggot infestation ICD10:B87.1|ICD10:B87.8|ICD10:B87|ICD9:134.0|ICD10:B87.0|ICD10:B87.2|MESH:D009198|ICD10:B87.9|EFO:0007389|UMLS:C0027030|NCIT:C128400|ICD10:B87.3|ICD10:B87.4|DOID:11080|SCTID:60412004|MedDRA:10028586|Orphanet:75110 owl:Class UBERON:0002198 biolink:NamedThing neurohypophysis The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. tmpak2llvmy_mondo_relaxed.owl posterior pituitary|pituitary gland neural lobe|infundibular process|lobus nervosus neurohypophysis|posterior lobe of hypophysis|neural lobe of pituitary gland|pituitary gland, posterior lobe|lobus posterior|posterior lobe of pituitary gland|NHP|posterior lobe of pituitary|neurohypophysis|pituitary gland, neural lobe|neural lobe of pituitary|neuro hypophysis|posterior pituitary gland|lobus posterior (glandula pituitaria)|neural lobe|lobus posterior hypophysis|lobus nervosus owl:Class UBERON:0010134 biolink:NamedThing secretory circumventricular organ A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004914 biolink:NamedThing celiac artery stenosis from compression by median arcuate ligament of diaphragm A syndromic disease that involves the median arcuate ligament. tmpak2llvmy_mondo_relaxed.owl Marable's syndrome|celiac artery stenosis from compression by median arcuate ligament of diaphragm|celiac access syndrome|median arcuate ligament syndrome|syndromic disease of median arcuate ligament|Harjola-Marable syndrome|celiac artery compression syndrome|median arcuate ligament syndromic disease GARD:0012308|UMLS:C1861783|ICD10:I77.4|ICD9:447.4|OMIM:116870|DOID:9892|MESH:C566151|SCTID:9250002 https://github.com/monarch-initiative/mondo/issues/3691 owl:Class CL:0000319 biolink:NamedThing mucus secreting cell tmpak2llvmy_mondo_relaxed.owl mucous cell BTO:0003689 cell owl:Class MONDO:0023246 biolink:NamedThing linear porokeratosis Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults. tmpak2llvmy_mondo_relaxed.owl Porokeratosis, Linear|Congenital facial linear porokeratosis (type)|Linear porokeratosis|Linear Porokeratosis|Zosteriform porokeratosis SCTID:238631008|UMLS:C0302319 owl:Class MONDO:0006602 biolink:NamedThing porokeratosis A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella. tmpak2llvmy_mondo_relaxed.owl porokeratosis (disease)|porokeratosis porokeratosis (disease) ICD9:757.39|ICD10:Q82.8|UMLS:C0162839|Orphanet:79358|MedDRA:10036175|ICD9:692.75|Wikipedia:Porokeratosis|SCTID:400080004|ICD10:L56.5|NCIT:C85019|EFO:1000757|OMIMPS:175800|DOID:3805|HP:0200044 owl:Class MONDO:0020144 biolink:NamedThing cerebrovascular dementia tmpak2llvmy_mondo_relaxed.owl rare cerebrovascular dementia Orphanet:98549 owl:Class MONDO:0001627 biolink:NamedThing dementia Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. tmpak2llvmy_mondo_relaxed.owl dementia (disease)|dementia dementia (disease) DOID:1307|GARD:0011946|MESH:D003704|NCIT:C4786|SCTID:52448006|ICD9:290.8|ICD9:294.8|ICD9:294.1 owl:Class UBERON:0008982 biolink:NamedThing fascia A dense regular connective tissue that that connects muscles together[WP, modified]. tmpak2llvmy_mondo_relaxed.owl fascia cluster owl:Class UBERON:0007846 biolink:NamedThing dense regular connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). tmpak2llvmy_mondo_relaxed.owl regular dense connective tissue|dense regular collagenous connective tissue|dense fibrous connective tissue|typus regularis (textus connectivus collagenosus compactus)|dense regular collagenous tissue owl:Class HGNC:3176 biolink:NamedThing EDN1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048870 biolink:NamedThing cell motility Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. tmpak2llvmy_mondo_relaxed.owl cell movement|cell locomotion|movement of a cell owl:Class MONDO:0001672 biolink:NamedThing bronchus cancer A malignant neoplasm involving the bronchus tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of bronchus and lung|malignant bronchus neoplasm|bronchus cancer|malignant neoplasm of bronchus and lung, unspecified|malignant neoplasm of bronchus|malignant neoplasm of bronchus or lung|cancer of bronchus ICD10:C34.9|ICD10:C34|ICD9:162.8|SCTID:363493006|ICD9:162.9|DOID:1325 owl:Class MONDO:0004992 biolink:NamedThing cancer A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. tmpak2llvmy_mondo_relaxed.owl malignancy|MT|neoplasm (disease), malignant|cancer|malignant Growth|malignant neoplasm (disease)|malignant neoplasm|organ system cancer|CA|neoplasm, malignant|malignant tumor|malignant neoplastic disease|primary cancer|cell type cancer ICD10:C80|DOID:0050687|ICDO:8000/3|DOID:162|EFO:0000311|ICD10:C80.1|NCIT:C9305|ONCOTREE:MT|SCTID:363346000|GARD:0011960|NIFSTD:birnlex_406|ICD9:195.8|DOID:0050686|UMLS:C0006826|ICD9:199|ICD9:199.1 owl:Class MONDO:0005858 biolink:NamedThing mucinous cystadenocarcinoma An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. tmpak2llvmy_mondo_relaxed.owl Pseudomucinous adenocarcinoma|mucinous cystadenocarcinoma (morphologic abnormality)|mucinous cystadenocarcinoma|Pseudomucinous cystadenocarcinoma|mucinous cystadenocarcinoma NOS (morphologic abnormality) ICDO:8470/3|UMLS:C0206699|EFO:0007378|MESH:D018282|DOID:3603|NCIT:C3776 owl:Class UBERON:0004948 biolink:NamedThing submucosa of left main bronchus A submucosa that is part of a left main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of left bronchus|left main bronchial submucosa|left principal bronchus submucosa|left main bronchus submucosa|submucosa of left principal bronchus|left bronchus submucosa owl:Class UBERON:0000009 biolink:NamedThing submucosa A layer of dense irregular connective tissue that lines organs and supports the mucosa, as well as joins the mucosa to the bulk of underlying smooth muscle. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl organ submucosa|submucous layer|region of submucosa|tunica submucosa|submucosa of organ|tela submucosa|submucosa of region of organ owl:Class HP:0005390 biolink:NamedThing Recurrent opportunistic infections Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. tmpak2llvmy_mondo_relaxed.owl Frequent opportunistic infections UMLS:C1832324 HP:0005426 human_phenotype owl:Class HP:0002719 biolink:NamedThing Recurrent infections Increased susceptibility to infections. tmpak2llvmy_mondo_relaxed.owl Frequent, severe infections|Susceptibility to infection|Increased frequency of infection|Predisposition to infections|infections, recurrent|Recurrent infections|Frequent infections UMLS:C0239998 HP:0002957|HP:0002964|HP:0005405 human_phenotype owl:Class MONDO:0005834 biolink:NamedThing lymphogranuloma venereum Infection with the organism Mycobacterium. tmpak2llvmy_mondo_relaxed.owl lymph granuloma inguinale|climatic or tropical bubo|Poradenitis inguinale|strumous bubo|Durand-Nicolas-Favre disease|lymphogranuloma inguinale|LGV EFO:0007353|SCTID:186946009|MESH:D008219|NCIT:C26822|GARD:0009545|ICD10:A55|DOID:13819|UMLS:C0024286|ICD9:099.1 https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum owl:Class MONDO:0005833 biolink:NamedThing lymphatic system disease A disease involving the lymphatic part of lymphoid system. tmpak2llvmy_mondo_relaxed.owl lymphatic disease|adenopathy|lymphatic disorder|swollen gland|glands, swollen|disorder of lymph node and lymphatics|disease of lympoid system|disease or disorder of lymphatic part of lymphoid system|disorder of lymphatic part of lymphoid system|lymphatic part of lymphoid system disease or disorder|lymphatic part of lymphoid system disease|lymphangiopathy|swollen glands|lymphadenopathy|disease of lymphatic part of lymphoid system|lympoid system disease|disorder of lymphoid system|disorder of lymphatic system NCIT:C50764|UMLS:C0024228|MESH:D008206|DOID:75|EFO:0007352|SCTID:362971004 Editor note: check alignment to anatomy, consider lymphoid system disease owl:Class UBERON:0014477 biolink:NamedThing thoracic skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. tmpak2llvmy_mondo_relaxed.owl skeleton of thorax|thoracic skeleton|thoracic part of axial skeleton owl:Class HGNC:28403 biolink:NamedThing TRMT10A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024564 biolink:NamedThing cerebroretinal microangiopathy with calcifications and cysts 1 Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene. tmpak2llvmy_mondo_relaxed.owl CTC1 Coats plus syndrome|cerebroretinal microangiopathy with calcifications and cysts 1|CRMCC1|Coats plus syndrome|Crmcc|Coats plus syndrome caused by mutation in CTC1 OMIM:612199 owl:Class MONDO:0012815 biolink:NamedThing Coats plus syndrome Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. tmpak2llvmy_mondo_relaxed.owl cerebroretinal microangiopathy with calcifications and cysts|CRMCC|cerebroretinal microangiopathy with calcfications and cysts ICD9:348.89|ICD10:H35.0|OMIMPS:612199|SCTID:711482008|UMLS:CN282828|MESH:C567401|Orphanet:313838 owl:Class MONDO:0006763 biolink:NamedThing frozen shoulder Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. tmpak2llvmy_mondo_relaxed.owl adhesions-capsulitis,shoulder|adhesive capsulitis of shoulder ICD10:M75.0|DOID:14188|MedDRA:10017391|SCTID:399114005|EFO:1000941|ICD9:726.0|UMLS:C0311223 owl:Class MONDO:0005218 biolink:NamedThing muscular disease Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. tmpak2llvmy_mondo_relaxed.owl muscle organ disease|disease of muscle organ|disease or disorder of muscle organ|disorder of muscle organ|muscle organ disease or disorder EFO:0002970|DOID:0080000|MESH:D009135 Editor note: consider merging with child owl:Class HGNC:29059 biolink:NamedThing IQSEC2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903707 biolink:NamedThing negative regulation of hemopoiesis Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis. tmpak2llvmy_mondo_relaxed.owl down-regulation of haemopoiesis|inhibition of blood cell formation|down-regulation of blood cell formation|inhibition of hemopoiesis|inhibition of hematopoiesis|down regulation of haemopoiesis|down-regulation of hematopoiesis|negative regulation of hematopoiesis|negative regulation of blood cell formation|down regulation of hemopoiesis|downregulation of blood cell formation|inhibition of blood cell biosynthesis|down regulation of blood cell biosynthesis|inhibition of haemopoiesis|down-regulation of blood cell biosynthesis|down regulation of blood cell formation|negative regulation of blood cell biosynthesis|down regulation of hematopoiesis|down-regulation of hemopoiesis|downregulation of blood cell biosynthesis|downregulation of hematopoiesis|downregulation of haemopoiesis|downregulation of hemopoiesis|negative regulation of haemopoiesis owl:Class MONDO:0019835 biolink:NamedThing primary hypophysitis Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease). tmpak2llvmy_mondo_relaxed.owl autoimmune hypophysitis|lymphocytic hypophysitis ICD9:279.49|ICD10:E23.6|NCIT:C132055|ICD9:253.8|MESH:D000069281|Orphanet:95506|SCTID:237706000 owl:Class MONDO:0021156 biolink:NamedThing hypophysitis Inflammation of the pituitary gland. tmpak2llvmy_mondo_relaxed.owl hypophysis|hypophysis cerebri|pituitary gland inflammation|hypophysitides|pituitary gland|nervous system, pituitary|inflammation of pituitary gland|pituitary|gland, pituitary UMLS:C0342409|NCIT:C12399|MESH:D000072659|SCTID:237705001 Editor note: TODO - add all subtypes; Granulomatous hypophysitis is one of five types of inflammatory hypophysitis, which are (lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, and necrotizing) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494403/ owl:Class CL:0008008 biolink:NamedThing striated visceral muscle cell A visceral muscle cell that is striated. Examples include the visceral muscle cells of arhtropods. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0008007 biolink:NamedThing visceral muscle cell A muscle cell that is part of some visceral muscle tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019738 biolink:NamedThing atypical hemolytic-uremic syndrome with H factor anomaly tmpak2llvmy_mondo_relaxed.owl D-HUS with H factor anomaly|hemolytic-uremic syndrome without diarrhea with H factor anomaly|aHUS with H factor anomaly|atypical HUS with H factor anomaly ICD10:D58.8|Orphanet:93579|UMLS:CN206650 owl:Class MONDO:0009335 biolink:NamedThing hemolytic uremic syndrome, atypical, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl hemolytic uremic syndrome, atypical, susceptibility to, 1|Ahus, susceptibility to, 1|hemolytic uremic syndrome, atypical, susceptibility to, type 1|AHUS1|hemolytic uremic syndrome, typical|susceptibility to atypical hemolytic uremic syndrome 1 OMIM:235400 owl:Class MONDO:0010890 biolink:NamedThing acrocardiofacial syndrome Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome|ACFS|cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly|CCGE|CCGE syndrome|acrocardiofacial syndrome MESH:C563936|Orphanet:2008|UMLS:C1838121|ICD10:Q87.8|GARD:0001167|OMIM:600460 owl:Class MONDO:0012664 biolink:NamedThing spastic ataxia 3 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene. tmpak2llvmy_mondo_relaxed.owl spastic ataxia type 3|spastic ataxia 3, autosomal recessive|autosomal recessive spastic ataxia type 3|SPAX3|MARS2 autosomal recessive spastic ataxia|autosomal recessive spastic ataxia with leukoencephalopathy|ARSAL|autosomal recessive spastic ataxia caused by mutation in MARS2 UMLS:CN230089|UMLS:C1969645|MESH:C566956|DOID:0050942|OMIM:611390|ICD10:G11.4|Orphanet:314603 owl:Class MONDO:0017847 biolink:NamedThing autosomal recessive spastic ataxia Autosomal recessive form of spastic ataxia. tmpak2llvmy_mondo_relaxed.owl AR-SPAX|spastic ataxia, autosomal recessive UMLS:CN229112|Orphanet:316240|ICD10:G11.8 owl:Class MONDO:0002206 biolink:NamedThing sweat gland cancer A malignant neoplasm that affects the sweat glands. tmpak2llvmy_mondo_relaxed.owl cancer of sweat gland|malignant neoplasm of sweat gland|malignant tumor of sweat gland|malignant neoplasm of the sweat gland|malignant sweat gland neoplasm|sweat gland cancer|sweat gland neoplasms, malignant|malignant tumor of the sweat gland NCIT:C4810|ICD10:C44|UMLS:C1321904|DOID:2095 owl:Class MONDO:0004757 biolink:NamedThing chronic ethmoidal sinusitis Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpak2llvmy_mondo_relaxed.owl ethmoid sinusitis, chronic|chronic ethmoidal sinusitis|chronic ethmoiditis|ethmoidal sinusitis - chronic|chronic ethmoid sinusitis ICD10:J32.2|SCTID:73237007|UMLS:C0008681|NCIT:C34472|DOID:9312|ICD9:473.2 owl:Class MONDO:0006031 biolink:NamedThing chronic rhinosinusitis Chronic form of sinusitis. tmpak2llvmy_mondo_relaxed.owl sinusitis, chronic|chronic sinusitis ICD9:473.8|SCTID:40055000|PMID:25838086|NCIT:C35151|EFO:1000024|ICD9:473.9|UMLS:C0149516 owl:Class MONDO:0009385 biolink:NamedThing hyperleucine-Isoleucinemia tmpak2llvmy_mondo_relaxed.owl hyperleucine-Isoleucinemia MESH:C562674|UMLS:C0268574|SCTID:7046009|OMIM:238340 owl:Class CHEBI:91007 biolink:NamedThing aromatic carboxylate A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl an aromatic carboxylate owl:Class CHEBI:29067 biolink:NamedThing carboxylic acid anion The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated. tmpak2llvmy_mondo_relaxed.owl carboxylic acid anions|carboxylic anions|a carboxylate owl:Class MONDO:0030992 biolink:NamedThing short stature, oligodontia, dysmorphic facies, and motor delay tmpak2llvmy_mondo_relaxed.owl SOFM OMIM:619234 owl:Class MONDO:0005517 biolink:NamedThing pharynx cancer A primary or metastatic malignant neoplasm that affects the pharynx. tmpak2llvmy_mondo_relaxed.owl pharyngeal neoplasm|pharynx neoplasm|malignant chordate pharynx neoplasm|malignant pharyngeal tumor|pharyngeal cancer|malignant tumor of the pharynx|chordate pharynx cancer|cancer of chordate pharynx|pharynx cancer|malignant neoplasm of chordate pharynx|malignant pharynx neoplasm|malignant pharyngeal neoplasm|malignant neoplasm of pharynx|cancer of pharynx|malignant tumor of pharynx|malignant pharynx tumor EFO:0005577|NCIT:C7545|DOID:0060119|MESH:D010610 owl:Class MONDO:0021310 biolink:NamedThing malignant tumor of neck A cancer that involves the neck. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the neck|malignant neoplasm of neck|malignant neck tumor|neck cancer|cancer of the neck|malignant tumor of the neck|cancer of neck|malignant neck neoplasm UMLS:C0746787|SCTID:363489000|NCIT:C4940 owl:Class HGNC:1440 biolink:NamedThing CALCR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008434 biolink:NamedThing Smith-Magenis syndrome Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. tmpak2llvmy_mondo_relaxed.owl 17p11.2 microdeletion syndrome|chromosome 17p11.2 deletion syndrome|Smith-Magenis syndrome chromosome region|SMITH-Magenis syndrome|chromosome 17P11.2 deletion syndrome|Smith-Magenis syndrome|SMS|Smith-Magenis chromosome region Orphanet:819|UMLS:C0795864|OMIM:182290|ICD10:Q93.5|GARD:0008197|ICD9:758.33|SCTID:401315004|MESH:D058496|NCIT:C75469|DOID:0060768 owl:Class MONDO:0016895 biolink:NamedThing partial monosomy of the short arm of chromosome 17 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 17p|partial deletion of the short arm of chromosome 17|partial monosomy of the short arm of chromosome type 17|partial monosomy of chromosome 17p 2021-01-01 ICD10:Q93.5|Orphanet:261965 Reason: duplicate. This will be merged with MONDO:0022754 chromosome 17p deletion owl:Class HP:0011276 biolink:NamedThing Vascular skin abnormality tmpak2llvmy_mondo_relaxed.owl Skin vascular malformation|Vascular abnormalities restricted to skin UMLS:C1842892|MSH:D017445|UMLS:C0162819|SNOMEDCT_US:11263005 peter 2011-12-29T08:52:53Z human_phenotype owl:Class HP:0002597 biolink:NamedThing Abnormality of the vasculature An abnormality of the vasculature. tmpak2llvmy_mondo_relaxed.owl Abnormality of blood vessels|Abnormality of the vasculature|Vascular abnormalities UMLS:C0241657 human_phenotype owl:Class UBERON:0012355 biolink:NamedThing manual acropodium region The segment of the manus that is distal to the metacarpal region and consists of the manual digits (fingers). tmpak2llvmy_mondo_relaxed.owl set of digits of hand|acropodial hindlimb segment|manual acropodium segment of limb|set of fingers|anterior acropodium segment of limb|digits of hand|manual acropodium|all fingers|fingers including thumb|fingers set|acropodial region of manus|acropodial segment of manus|anterior acropodium region|digiti manus|anterior acropodium|manual acropodium region owl:Class UBERON:0005451 biolink:NamedThing segment of manus A segment of autopod that is part of a manus. tmpak2llvmy_mondo_relaxed.owl subdivision of hand|hand region|hand subdivision|segment of hand|regio manus owl:Class GO:0046851 biolink:NamedThing negative regulation of bone remodeling Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling. tmpak2llvmy_mondo_relaxed.owl inhibition of bone remodeling|down-regulation of bone remodeling|downregulation of bone remodeling|down regulation of bone remodeling owl:Class GO:0034104 biolink:NamedThing negative regulation of tissue remodeling Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0028226 biolink:NamedThing autosomal recessive severe congenital neutropenia tmpak2llvmy_mondo_relaxed.owl Orphanet:439849 owl:Class MONDO:0005154 biolink:NamedThing liver disease A disease involving the liver. tmpak2llvmy_mondo_relaxed.owl hepatic disease|disease of liver|hepatic disorder|disease or disorder of liver|liver and intrahepatic bile duct disorder|liver disease or disorder|liver disease|liver disorder|disorder of liver DOID:409|ICD10:K70-K77|ICD9:573.8|UMLS:C0023895|SCTID:235856003|MESH:D008107|EFO:0001421|NCIT:C3196|ICD10:K76.9|ICD9:573.9 owl:Class MONDO:0005151 biolink:NamedThing endocrine system disease A disease involving the endocrine system. tmpak2llvmy_mondo_relaxed.owl endocrine disease|endocrinopathy|endocrine system disease|disorder of endocrine system|endocrine disorder|endocrine system disorder|disease of endocrine system|disease or disorder of endocrine system|thyroid or other glandular disorders|endocrine system disease or disorder NCIT:C3009|DOID:28|EFO:0001379|UMLS:C0014130|MESH:D004700|ICD9:259.9|ICD10:E34.9|SCTID:362969004|ICD9:259.8 owl:Class HGNC:8857 biolink:NamedThing PEX16 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010559 biolink:NamedThing regulation of glycoprotein biosynthetic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903018 biolink:NamedThing regulation of glycoprotein metabolic process Any process that modulates the frequency, rate or extent of glycoprotein metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of glycoprotein metabolism owl:Class MONDO:0018089 biolink:NamedThing double outlet right ventricle Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle. tmpak2llvmy_mondo_relaxed.owl double outlet right ventricle|DORV|Dextrotransposition of aorta Orphanet:3426|NCIT:C98916|MESH:D004310|ICD10:Q20.1|UMLS:C0013069|MedDRA:10013611|SCTID:204299009|GARD:0001908|DOID:6406 owl:Class MONDO:0002070 biolink:NamedThing ventricular septal defect The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. tmpak2llvmy_mondo_relaxed.owl VSD|ventricular septal abnormality|ventricular septal defects|ventricular septal defect (disease)|heart septal defects, ventricular|interventricular septal defect|ventricular septal defect ventricular septal defect (disease) OMIMPS:614429|DOID:1657|HP:0001629|MESH:D006345|SCTID:30288003|ICD10:Q21.0|NCIT:C84506|ICD9:745.4|GARD:0007853 owl:Class MONDO:0006248 biolink:NamedThing hydatidiform mole A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. tmpak2llvmy_mondo_relaxed.owl hydatid Mole|HYDM|hydatidiform mole|molar pregnancy|hydatidiform mole, recurrent ICD10:O01.0|ONCOTREE:MP|ICDO:9100/0|SCTID:44782008|ICD10:O01.1|UMLS:C0020217|ICD10:O01.9|OMIMPS:231090|NCIT:C3110|GARD:0010263|MESH:D006828|EFO:1000298|Orphanet:99927|MedDRA:10020481|ICD9:631 owl:Class GO:0004970 biolink:NamedThing ionotropic glutamate receptor activity Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022824 biolink:NamedThing transmitter-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. tmpak2llvmy_mondo_relaxed.owl ionotropic neurotransmitter receptor activity owl:Class MONDO:0007033 biolink:NamedThing abducens nerve palsy Paralysis of the abducens nerve. tmpak2llvmy_mondo_relaxed.owl abducens nerve weakness|VI nerve palsy|lateral rectus muscle innervation disorder|VIth nerve paralysis|VIth nerve disorder|abducens nerve disease|cranial nerve VI palsy|abducens nerve cranial nerve palsy|sixth nerve paralysis|disorder of abducent nerve|sixth or abducens nerve palsy|lateral rectus muscle denervation paresis|6th nerve palsy|sixth cranial nerve disorder|abducent nerve paralysis|abducens palsy|sixth cranial nerve palsy|cranial mononeuropathy VI|cranial nerve palsy of abducens nerve|sixth nerve palsy GARD:0009482|ICD10:H49.2|NCIT:C27592|SCTID:398963001|OMIM:100200|DOID:10865|ICD9:378.54 owl:Class MONDO:0020594 biolink:NamedThing abducens nerve disease A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve). tmpak2llvmy_mondo_relaxed.owl abducens nerve disease or disorder|abducens nerve disorder|abducens nerve disease|VIth nerve disorder|disease of abducens nerve|disorder of abducens nerve|disease or disorder of abducens nerve NCIT:C27593|SCTID:398925009 owl:Class MONDO:0013344 biolink:NamedThing migraine, with or without aura, susceptibility to, 13 Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene. tmpak2llvmy_mondo_relaxed.owl KCNK18 migraine disorder|migraine disorder caused by mutation in KCNK18|migraine with or without aura, susceptibility to, 13|MGR13|migraine, with or without aura, susceptibility to, type 13|susceptibility to migraine with or without aura 13|migraine, with or without aura, susceptibility to, 13 OMIM:613656 owl:Class MONDO:0100246 biolink:NamedThing migraine with or without aura, susceptibility to An inherited susceptibility or predisposition to developing migraines with or without aura. tmpak2llvmy_mondo_relaxed.owl migraine with or without aura, susceptibility|migraine with or without aura, susceptibility to OMIMPS:157300 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0012130 biolink:NamedThing myofibrillar myopathy 2 Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant distal myopathy caused by mutation in CRYAB|myofibrillar myopathy type 2|late-onset distal crystallinopathy|myopathy, myofibrillar, with or without cataract and/or cardiomyopathy|myopathy, myofibrillar, 2|MFM2|myopathy, myofibrillar, alpha-B crystallin-related|alpha-B crystallinopathy|alpha-B crystallin-related late-onset distal myopathy|myopathy, myofibrillar, type 2|myopathy, desmin-related, associated with mutation in the Cryab Gene|CRYAB autosomal dominant distal myopathy Orphanet:399058|MESH:C563848|DOID:0080093|ICD10:G71.0|UMLS:C1837317|OMIM:608810 owl:Class MONDO:0016108 biolink:NamedThing autosomal dominant distal myopathy Autosomal dominant form of distal myopathy. tmpak2llvmy_mondo_relaxed.owl distal myopathy, autosomal dominant ICD10:G71.0|UMLS:CN229018|Orphanet:206650 owl:Class MONDO:0018353 biolink:NamedThing refractory celiac disease Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia. tmpak2llvmy_mondo_relaxed.owl intractable celiac sprue|refractory sprue|refractory CD|type I refractory sprue|type II refractory sprue UMLS:CN226092|Orphanet:398063|ICD10:K90.0|EFO:0009266 owl:Class GO:0003341 biolink:NamedThing cilium movement The directed, self-propelled movement of a cilium. tmpak2llvmy_mondo_relaxed.owl cilium beating|microtubule-based flagellum movement|flagellar motility|ciliary motility|flagellar movement|flagellum movement owl:Class GO:0007018 biolink:NamedThing microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:157541 biolink:NamedThing Zygodontomys brevicauda tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:157540 biolink:NamedThing Zygodontomys tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0002019 biolink:NamedThing accessory XI nerve A cranial nerve that originates from neurons in the medulla and in the cervical spinal cord. tmpak2llvmy_mondo_relaxed.owl cranial nerve XI|spinal part of accessory nerve|accessory nerve [XI]|spinal accessory nerve|CN-XI|accessory XI nerve|spinal accessory nerve tree|pars spinalis nervus accessorius|nervus accessorius [XI]|accessory nerve|eleventh cranial nerve|Willis' nerve|cervical accessory nerve|accessory spinal nerve|radix spinalis nervus accessorius|accessory XI owl:Class UBERON:0035642 biolink:NamedThing laryngeal nerve Any nerve that innervates the larynx. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007879 biolink:NamedThing larynx atresia A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. tmpak2llvmy_mondo_relaxed.owl congenital atresia of the larynx|congenital atresia of larynx|congenital partial atresia of the larynx|larynx, congenital partial atresia OF|laryngeal atresia NCIT:C98972|UMLS:C0265756|MESH:C563637|ICD9:748.3|ICD10:Q31.8|GARD:0003194|GARD:0003192|SCTID:64981002|OMIM:150300|Orphanet:1202 owl:Class MONDO:0015504 biolink:NamedThing larynx anomaly tmpak2llvmy_mondo_relaxed.owl ICD10:Q31.9|ICD10:Q31.3|ICD10:Q31.1|ICD10:Q31.8|ICD10:Q31.0|Orphanet:156249|ICD10:Q31.5 owl:Class MONDO:0009727 biolink:NamedThing atelosteogenesis type II Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. tmpak2llvmy_mondo_relaxed.owl AOII|Aoii|De la Chapelle dysplasia|atelosteogenesis type 2|atelosteogenesis, type 2|neonatal osseous dysplasia type 1|atelosteogenesis, type II|atelosteogenesis type II|atelosteogenesis II|neonatal osseous dysplasia 1|AO2|De 50A Chapelle dysplasia MESH:C535395|UMLS:C1850555|GARD:0008329|ICD9:756.9|UMLS:C1850554|OMIM:256050|Orphanet:56304|SCTID:254055004|ICD10:Q77.5 owl:Class GO:0060084 biolink:NamedThing synaptic transmission involved in micturition The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body. tmpak2llvmy_mondo_relaxed.owl synaptic transmission involved in urination owl:Class GO:0007274 biolink:NamedThing neuromuscular synaptic transmission The process of synaptic transmission from a neuron to a muscle, across a synapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032583 biolink:NamedThing microcephaly 24, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MCPH24|MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE OMIM:618179 owl:Class MONDO:0004855 biolink:NamedThing tenosynovitis Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. tmpak2llvmy_mondo_relaxed.owl Inflammation of tendon sheath|Tenosynovitides|tendon sheath inflammation|inflammation of tendon sheath UMLS:C0039520|DOID:970|EFO:1001435|MESH:D013717|SCTID:67801009 owl:Class MONDO:0024876 biolink:NamedThing tendon sheath disorder A disease that involves the tendon sheath. tmpak2llvmy_mondo_relaxed.owl disease or disorder of tendon sheath|tendon sheath disorder|disorder of tendon sheath|tendon sheath disease|tendon sheath disease or disorder|disease of tendon sheath SCTID:312381009|UMLS:C0729734|ICD9:727.9 owl:Class MONDO:0014477 biolink:NamedThing developmental and epileptic encephalopathy, 26 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene. tmpak2llvmy_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in KCNB1|EIEE26|KCNB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 26|DEE26|epileptic encephalopathy, early infantile, type 26|early infantile epileptic encephalopathy 26 OMIM:616056|DOID:0080461|UMLS:C4015119|GARD:0012391 https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26 owl:Class MONDO:0100455 biolink:NamedThing neonatal-onset developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4058 owl:Class MONDO:0018011 biolink:NamedThing juvenile overlap myositis Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. tmpak2llvmy_mondo_relaxed.owl ICD10:M33.0|Orphanet:329894|SCTID:766252004 owl:Class MONDO:0018010 biolink:NamedThing juvenile idiopathic inflammatory myopathy tmpak2llvmy_mondo_relaxed.owl JIIM Orphanet:329888 owl:Class MONDO:0017324 biolink:NamedThing autosomal recessive hypophosphatemic rickets Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. tmpak2llvmy_mondo_relaxed.owl autosomal recessive hereditary hypophosphatemic rickets|ARHR|hypophosphatemic rickets, autosomal recessive|hereditary hypophosphatemic rickets, autosomal recessive DOID:0050949|ICD10:E83.3|SCTID:90505000|Orphanet:289176|UMLS:CN202957 owl:Class MONDO:0000044 biolink:NamedThing hereditary hypophosphatemic rickets Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium. tmpak2llvmy_mondo_relaxed.owl hereditary hypophosphatemic rickets GARD:0006735|ICD10:E83.3|OMIMPS:193100|Orphanet:437|MedDRA:10060873 https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets owl:Class UBERON:0007692 biolink:NamedThing nucleus of thalamus A nucleus of brain that is part of a thalamus. tmpak2llvmy_mondo_relaxed.owl nuclear complex of thalamus|thalamic nucleus owl:Class UBERON:0006569 biolink:NamedThing diencephalic nucleus A nucleus of brain that is part of a diencephalon. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000970 biolink:NamedThing Anhidrosis Inability to sweat. tmpak2llvmy_mondo_relaxed.owl Sudomotor dysfunction|Sweating dysfunction|Lack of sweating|Anhydrosis UMLS:C0003028|SNOMEDCT_US:39659002|MSH:D007007|SNOMEDCT_US:14662005|MEDDRA:10002512 human_phenotype owl:Class MONDO:0013920 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 3 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene. tmpak2llvmy_mondo_relaxed.owl encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5|IIAE5|TRAF3 herpes simplex encephalitis|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5|Herpes simplex encephalitis, susceptibility to, type 3|encephalopathy, acute, infection-induced, susceptibility to, 5|herpes simplex encephalitis, susceptibility to, 3|herpes simplex encephalitis caused by mutation in TRAF3 OMIM:614849 owl:Class MONDO:0020068 biolink:NamedThing postinfectious encephalitis tmpak2llvmy_mondo_relaxed.owl ICD9:323.6|UMLS:C0393459|MedDRA:10057235|Orphanet:98253|SCTID:192727001 owl:Class MONDO:0001092 biolink:NamedThing colon leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of the colon|leiomyoma of colon|colon leiomyoma|colonic leiomyoma NCIT:C5492|DOID:10656|UMLS:C1333092 owl:Class MONDO:0002278 biolink:NamedThing benign colon neoplasm A non-metastasizing neoplasm arising from the wall of the colon. tmpak2llvmy_mondo_relaxed.owl benign tumor of the colon|colon neoplasm|benign colon tumor|benign neoplasm of colon|colon benign neoplasm|colonic tumor|benign colon neoplasm|benign tumor of colon|benign colonic tumor|benign neoplasm of the colon|colonic benign neoplasm|colonic Mass|benign colonic neoplasm NCIT:C2894|UMLS:C0004991|DOID:235|ICD9:211.3|SCTID:92065004 MONDO:0021466 owl:Class MONDO:0019398 biolink:NamedThing desmin-related myopathy with Mallory body-like inclusions tmpak2llvmy_mondo_relaxed.owl early-onset desmin-related myopathy ICD10:G71.8|Orphanet:84132 owl:Class MONDO:0016112 biolink:NamedThing inclusion myopathy tmpak2llvmy_mondo_relaxed.owl cytoplasmic body myopathy GARD:0001658|Orphanet:206662|ICD10:G71.8 https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy owl:Class MONDO:0007164 biolink:NamedThing spastic ataxia 1 Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spastic ataxia type 1|SPAX1|autosomal dominant spastic ataxia caused by mutation in VAMP1|spastic ataxia 1, autosomal dominant|spastic ataxia type 1|VAMP1 autosomal dominant spastic ataxia OMIM:108600|Orphanet:251282|MESH:C566993|UMLS:C1970107|DOID:0050772|ICD10:G11.4 owl:Class MONDO:0017846 biolink:NamedThing autosomal dominant spastic ataxia Autosomal dominant form of spastic ataxia. tmpak2llvmy_mondo_relaxed.owl AD-SPAX|spastic ataxia, autosomal dominant Orphanet:316235|ICD10:G11.4|UMLS:CN229111 owl:Class HGNC:8983 biolink:NamedThing PI4KA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010332 biolink:NamedThing X-linked intellectual disability-cubitus valgus-dysmorphism syndrome An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. tmpak2llvmy_mondo_relaxed.owl cubitus valgus with mental retardation and unusual facies|cubitus valgus with intellectual disability and unusual facies ICD10:Q87.8|OMIM:300471|MESH:C564510|UMLS:C1845450|Orphanet:85280 owl:Class UBERON:0010959 biolink:NamedThing craniocervical muscle Any muscle organ that is part of either the head or the neck. tmpak2llvmy_mondo_relaxed.owl muscle of head or neck|muscle of head and neck owl:Class UBERON:0014892 biolink:NamedThing skeletal muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). tmpak2llvmy_mondo_relaxed.owl skeletal muscle owl:Class MONDO:0006275 biolink:NamedThing lung giant cell carcinoma A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion. tmpak2llvmy_mondo_relaxed.owl GCLC|giant cell carcinoma|giant cell carcinoma of lung|giant cell lung carcinoma|lung giant cell carcinoma|giant cell carcinoma of the lung SCTID:254631008|MESH:D018286|UMLS:C0345960|ONCOTREE:GCLC|UMLS:C0206703|EFO:1000332|NCIT:C4452|DOID:5583|ICD9:162.9 owl:Class MONDO:0006279 biolink:NamedThing lung sarcomatoid carcinoma A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor. tmpak2llvmy_mondo_relaxed.owl sarcomatoid carcinoma of the lung|lung sarcomatoid carcinoma SCTID:707460002|NCIT:C45540|ICD9:162.9|EFO:1000336|ONCOTREE:SARCL owl:Class GO:0045930 biolink:NamedThing negative regulation of mitotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. tmpak2llvmy_mondo_relaxed.owl negative regulation of mitotic cell cycle progression|down regulation of progression through mitotic cell cycle|downregulation of progression through mitotic cell cycle|down-regulation of progression through mitotic cell cycle|inhibition of progression through mitotic cell cycle|negative regulation of progression through mitotic cell cycle owl:Class GO:0007346 biolink:NamedThing regulation of mitotic cell cycle Any process that modulates the rate or extent of progress through the mitotic cell cycle. tmpak2llvmy_mondo_relaxed.owl mitotic cell cycle modulation|regulation of progression through mitotic cell cycle|regulation of mitotic cell cycle progression|mitotic cell cycle regulator|modulation of mitotic cell cycle progression|mitotic cell cycle regulation owl:Class MONDO:0024358 biolink:NamedThing complex sleep apnea A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. tmpak2llvmy_mondo_relaxed.owl complex sleep apnea|CompSAS|mixed sleep apnea DOID:0080302|SCTID:230493001 owl:Class MONDO:0007147 biolink:NamedThing obstructive sleep apnea syndrome Cessation of air flow during sleep due to upper airway obstruction. tmpak2llvmy_mondo_relaxed.owl Osa|OSAHS|Apneas, obstructive sleep|obstructive sleep Apneas|sleep Apneas, obstructive|syndrome, sleep apnea, obstructive|obstructive sleep apnea syndrome|syndrome, upper airway resistance, sleep apnea|sleep apnea/hypopnea syndrome|upper airway resistance sleep apnea syndrome|apnea, obstructive sleep|syndrome, obstructive sleep apnea|obstructive sleep apnea|sleep apnea syndrome, obstructive|sleep apnea hypopnea syndrome EFO:0003918|DOID:0050848|SCTID:78275009|OMIM:107650|ICD9:780.57|HP:0002870|ICD10:G47.33|ICD10:G47.3|ICD10:G47.30|MESH:D020181|NCIT:C27168|ICD9:327.23|UMLS:C0520679 owl:Class GO:0016836 biolink:NamedThing hydro-lyase activity Catalysis of the cleavage of a carbon-oxygen bond by elimination of water. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016835 biolink:NamedThing carbon-oxygen lyase activity Catalysis of the breakage of a carbon-oxygen bond. tmpak2llvmy_mondo_relaxed.owl other carbon-oxygen lyase activity owl:Class GO:1904253 biolink:NamedThing positive regulation of bile acid metabolic process Any process that activates or increases the frequency, rate or extent of bile acid metabolic process. tmpak2llvmy_mondo_relaxed.owl upregulation of bile acid metabolism|upregulation of bile acid metabolic process|up-regulation of bile acid metabolism|activation of bile acid metabolism|up-regulation of bile acid metabolic process|positive regulation of bile acid metabolism|activation of bile acid metabolic process|up regulation of bile acid metabolism|up regulation of bile acid metabolic process owl:Class GO:0031325 biolink:NamedThing positive regulation of cellular metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpak2llvmy_mondo_relaxed.owl upregulation of cellular metabolic process|positive regulation of cellular metabolism|up-regulation of cellular metabolic process|activation of cellular metabolic process|stimulation of cellular metabolic process|up regulation of cellular metabolic process owl:Class HGNC:2950 biolink:NamedThing DNAH5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3801 biolink:NamedThing FOXC2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7207 biolink:NamedThing MPDU1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007168 biolink:NamedThing atelosteogenesis type III Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. tmpak2llvmy_mondo_relaxed.owl AO3|atelosteogenesis, type 3|Aoiii|atelosteogenesis type 3|AOIII|atelosteogenesis, type III ICD10:Q78.8|SCTID:725142004|MESH:C579928|Orphanet:56305|OMIM:108721|GARD:0010608 owl:Class MONDO:0000389 biolink:NamedThing atelosteogenesis tmpak2llvmy_mondo_relaxed.owl DOID:0050648|OMIMPS:108720|UMLS:CN163181|SCTID:43814000 owl:Class CL:0002590 biolink:NamedThing smooth muscle cell of the brain vasculature A vascular associated smooth muscle cell of the brain vasculature. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:01:20Z cell owl:Class CL:0000359 biolink:NamedThing vascular associated smooth muscle cell A smooth muscle cell assocatiated with the vasculature. tmpak2llvmy_mondo_relaxed.owl VSMC|vascular smooth muscle cell cell owl:Class UBERON:0011591 biolink:NamedThing tract of diencephalon An axon tract that is part of a diencephalon. tmpak2llvmy_mondo_relaxed.owl diencephalon tract owl:Class UBERON:0007702 biolink:NamedThing tract of brain An axon tract that is part of a brain. tmpak2llvmy_mondo_relaxed.owl landmark tracts|brain tract owl:Class MONDO:0019246 biolink:NamedThing inborn disorder of lysosomal amino acid transport tmpak2llvmy_mondo_relaxed.owl disorder of lysosomal amino acid transport UMLS:CN227605|Orphanet:79207 owl:Class MONDO:0002561 biolink:NamedThing lysosomal storage disease A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. tmpak2llvmy_mondo_relaxed.owl lysosomal disease|lysosomal disorder|lysosome disorder|lysosome disease|disorder of lysosomal enzymes|inborn lysosomal enzyme disorder|lysosomal storage metabolism disorder|disorder of lysosomal enzyme|lysosomal storage disorder|phospholipidosis UMLS:C0085078|Orphanet:68366|DOID:3211|SCTID:23585005|NCIT:C61250|UMLS:CN205533|MESH:D016464 owl:Class MONDO:0003299 biolink:NamedThing colorectal leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of the large bowel|leiomyoma of large intestine|leiomyoma of large bowel|large bowel leiomyoma|leiomyoma of the large intestine|colorectum leiomyoma|colorectal leiomyoma|large intestine leiomyoma NCIT:C5677|DOID:5143|UMLS:C1333113 owl:Class MONDO:0005335 biolink:NamedThing colorectal neoplasm A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpak2llvmy_mondo_relaxed.owl large bowel neoplasm|colorectum neoplasm|neoplasm of the large bowel|colorectum tumor|colorectum neoplasm (disease)|colorectal tumor|tumor of large bowel|large intestine tumor|neoplasm of colorectum|tumor of colorectum|tumor of the large bowel|colorectal neoplasm|large intestine neoplasm|large intestinal neoplasm|large bowel tumor|neoplasm of large bowel MESH:D015179|EFO:0004142|NCIT:C2956 MONDO:0021236 owl:Class MONDO:0013575 biolink:NamedThing plasma fibronectin deficiency tmpak2llvmy_mondo_relaxed.owl plasma fibronectin deficiency OMIM:614101 owl:Class MONDO:0013970 biolink:NamedThing branched-chain keto acid dehydrogenase kinase deficiency Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. tmpak2llvmy_mondo_relaxed.owl BCKDK deficiency|Bckdk deficiency|branched-chain keto acid dehydrogenase kinase deficiency|branched-chain KETO acid dehydrogenase KINASE deficiency|autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency|BCKDKD DOID:0090126|ICD10:E71.1|Orphanet:308410|UMLS:C3554078|OMIM:614923 owl:Class MONDO:0013597 biolink:NamedThing platelet-type bleeding disorder 14 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene. tmpak2llvmy_mondo_relaxed.owl TBXAS1 inherited bleeding disorder, platelet-type|BDPLT14|bleeding disorder, platelet-type, 14|thromboxane synthase deficiency|thromboxane synthetase deficiency|inherited bleeding disorder, platelet-type caused by mutation in TBXAS1 OMIM:614158|UMLS:C0398635|SCTID:234477002|DOID:0111047|MESH:C562866 owl:Class MONDO:0000009 biolink:NamedThing inherited bleeding disorder, platelet-type tmpak2llvmy_mondo_relaxed.owl bleeding disorder, platelet-type|thrombocytopathy|platelet disorder|blood platelet disease DOID:2218|OMIMPS:231200|UMLS:C0005818 owl:Class UBERON:0037089 biolink:NamedThing wall of orbit tmpak2llvmy_mondo_relaxed.owl orbit wall owl:Class UBERON:0012175 biolink:NamedThing acoustico-facial VII-VIII ganglion complex tmpak2llvmy_mondo_relaxed.owl acousticofacial ganglion|facio-acoustic VII-VIII ganglion complex|facio-acoustic ganglion complex|facio-acoustic ganglion|facio-acoustic ganglion complex VII-VIII owl:Class UBERON:0001714 biolink:NamedThing cranial ganglion the groups of nerve cell bodies associated with the twelve cranial nerves tmpak2llvmy_mondo_relaxed.owl presumptive cranial ganglia|cranial neural tree organ ganglion|cranial ganglion part of peripheral nervous system|cranial ganglion/nerve|cranial neural ganglion|cranial nerve ganglion|cranial ganglion|ganglion of cranial nerve|head ganglion|cranial ganglia|ganglion of cranial neural tree organ owl:Class MONDO:0000894 biolink:NamedThing mucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. tmpak2llvmy_mondo_relaxed.owl DOID:0080185 owl:Class MONDO:0024338 biolink:NamedThing mucinous neoplasm tmpak2llvmy_mondo_relaxed.owl mucinous neoplasm|mucinous tumor NCIT:C7070|UMLS:C1334811 owl:Class NCBITaxon:188543 biolink:NamedThing Demodicidae tmpak2llvmy_mondo_relaxed.owl follicle mites GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:188547 biolink:NamedThing Cheyletoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0032787 biolink:NamedThing monocarboxylic acid metabolic process The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-). tmpak2llvmy_mondo_relaxed.owl monocarboxylate metabolic process|monocarboxylic acid metabolism owl:Class HP:0008070 biolink:NamedThing Sparse hair Reduced density of hairs. tmpak2llvmy_mondo_relaxed.owl Thin, sparse hair|Hypotrichosis|Marked hypotrichosis|Decreased hair growth on body|Sparse hair|Sparse hair since birth|Decreased hair growth SNOMEDCT_US:56558005|UMLS:C0020678|UMLS:C1837770|UMLS:C1860844|MEDDRA:10021126|MSH:D007039|SNOMEDCT_US:53602002 This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. peter 2008-04-02T04:11:00Z HP:0002291|HP:0004538|HP:0004522|HP:0001006|HP:0004525|HP:0002551|HP:0004874|HP:0002237 human_phenotype owl:Class HP:0011362 biolink:NamedThing Abnormal hair quantity An abnormal amount of hair. tmpak2llvmy_mondo_relaxed.owl Abnormal hair quantity|Abnormality of hair density UMLS:C4023401|UMLS:C4023397 peter 2012-03-01T08:46:57Z HP:0002115|HP:0011357 human_phenotype owl:Class MONDO:0033368 biolink:NamedThing developmental and epileptic encephalopathy, 59 tmpak2llvmy_mondo_relaxed.owl DEE59|epileptic encephalopathy, early infantile, 59|infantile epileptic encephalopathy 59|EIEE59 DOID:0080291|OMIM:617904|UMLS:CN870853 owl:Class MONDO:0100062 biolink:NamedThing developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. tmpak2llvmy_mondo_relaxed.owl early infantile epileptic encephalopathy with burst-suppression|Ohtahara syndrome|early infantile epileptic encephalopathy|developmental and epileptic encephalopathy|early infantile epileptic encephalopathy with suppression-bursts|infantile spasm|EIEE|infantile epileptic encephalopathy|epileptic encephalopathy, early infantile|epileptic encephalopathy, infantile 2018-10-10 22:04:15+00:00 Orphanet:1934|DOID:0050709|ICD10:G40.3|ICD9:345.6|MedDRA:10071545|NCIT:C122814|ICD10:G40.82|SCTID:230429005|DOID:2481|GARD:0009255|ICD9:345.10|EFO:1000643|OMIMPS:308350 Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. owl:Class MONDO:0001386 biolink:NamedThing visual epilepsy Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.' tmpak2llvmy_mondo_relaxed.owl epilepsy, visual UMLS:C0270824|MESH:D012640|DOID:11832|NCIT:C3980|SCTID:39194005 owl:Class MONDO:0003584 biolink:NamedThing visual cortex disease A disease involving the visual cortex. tmpak2llvmy_mondo_relaxed.owl disease or disorder of visual cortex|visual cortex dysfunction|visual cortex disease|visual cortex disorder|visual cortex disease or disorder|disease of visual cortex|disorder of visual cortex UMLS:C0234398|ICD10:H47.6|ICD9:377.7|SCTID:128329001|DOID:5691 owl:Class MONDO:0011713 biolink:NamedThing melanoma-pancreatic cancer syndrome tmpak2llvmy_mondo_relaxed.owl familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome|melanoma-pancreatic cancer syndrome OMIM:606719 owl:Class MONDO:0018453 biolink:NamedThing familial atypical multiple mole melanoma syndrome tmpak2llvmy_mondo_relaxed.owl familial Clark nevus syndrome|familial atypical mole syndrome|B-K mole syndrome|familial atypical mole melanoma syndrome|familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|melanoma-pancreatic cancer syndrome|familial dysplastic nevus syndrome|FAMM syndrome|FAMMM syndrome|FAMM-PC syndrome ICD10:D22.9|Orphanet:404560|NCIT:C27264 owl:Class GO:0002437 biolink:NamedThing inflammatory response to antigenic stimulus An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006954 biolink:NamedThing inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. tmpak2llvmy_mondo_relaxed.owl inflammation owl:Class UBERON:0001836 biolink:NamedThing saliva A fluid produced in the oral cavity by salivary glands, typically used in predigestion, but also in other functions. tmpak2llvmy_mondo_relaxed.owl saliva molecularis|saliva atomaris|sailva normalis|salivary gland secretion owl:Class UBERON:0000456 biolink:NamedThing secretion of exocrine gland A portion of organism substance that is produced by exocrine glands. tmpak2llvmy_mondo_relaxed.owl secreted substance|bodily secretion|secretion|external secretion|exocrine gland fluid/secretion|exocrine gland fluid|exocrine gland fluid or secretion|exocrine gland secretion owl:Class UBERON:8410051 biolink:NamedThing lymphatic vessel of colon A lymphatic vessel located in the colon. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001473 biolink:NamedThing lymphatic vessel A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]. tmpak2llvmy_mondo_relaxed.owl lymph vessel|vas lymphaticum owl:Class GO:0002244 biolink:NamedThing hematopoietic progenitor cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. tmpak2llvmy_mondo_relaxed.owl hemopoietic progenitor cell differentiation|haematopoietic progenitor cell differentiation|haemopoietic progenitor cell differentiation owl:Class GO:0030154 biolink:NamedThing cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017871 biolink:NamedThing bilateral massive adrenal hemorrhage tmpak2llvmy_mondo_relaxed.owl bilateral adrenal hemorrhage|BMAH UMLS:CN203920|ICD10:E27.4|Orphanet:319205 owl:Class MONDO:0019801 biolink:NamedThing acute adrenal insufficiency Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. tmpak2llvmy_mondo_relaxed.owl adrenal crisis|adrenocortical crisis|Addisonian crisis|acute adrenal failure|acute adrenocortical insufficiency Orphanet:95409|ICD10:E27.2|NCIT:C112840|ICD9:255.41|UMLS:C0151467|SCTID:24867002 owl:Class HGNC:8079 biolink:NamedThing FRMD7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008895 biolink:NamedThing splanchnocranium Subdivision of endoskeleton derived from pharyngeal arches tmpak2llvmy_mondo_relaxed.owl branchial arch skeleton|pharyngeal skeleton|viscerocranium|pharyngeal arch|visceral skeletal system|visceral cranium|visceral skeleton|gill arch skeleton|pharyngeal endoskeleton|pharyngeal arch skeleton owl:Class UBERON:0010314 biolink:NamedThing structure with developmental contribution from neural crest An anatomical structure that has some part that develops from the neural crest. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008541 biolink:NamedThing spermatic cord torsion An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. tmpak2llvmy_mondo_relaxed.owl torsion of testicle|torsion of testis|torsion of testicular cord|testicular torsion ICD9:608.2|SCTID:81996005|NCIT:C26885|ICD10:N44.00|ICD9:608.20|ICD10:N44.02|UMLS:C0037856|MESH:D013086|DOID:11996|OMIM:187400|ICD10:N44.0 owl:Class UBERON:0001678 biolink:NamedThing temporal bone the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous tmpak2llvmy_mondo_relaxed.owl os temporale owl:Class HGNC:17582 biolink:NamedThing KAT6B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000761 biolink:NamedThing syndrome caused by partial chromosomal deletion tmpak2llvmy_mondo_relaxed.owl chromosomal deletion syndrome DOID:0060388 Editor note: this is used in DOID to encompass typically partial deletions owl:Class MONDO:0003715 biolink:NamedThing bladder urachal carcinoma Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer. tmpak2llvmy_mondo_relaxed.owl bladder urachal cancer|urachal carcinoma|bladder urachal carcinoma DOID:5958|NCIT:C39842|ONCOTREE:URCA|UMLS:C1511205|GARD:0007836|MESH:C536475 owl:Class MONDO:0004986 biolink:NamedThing urinary bladder carcinoma A carcinoma that arises from epithelial cells of the urinary bladder tmpak2llvmy_mondo_relaxed.owl bladder carcinoma|carcinoma of bladder|carcinoma of the urinary bladder|urinary bladder carcinoma|carcinoma bladder|cancer of bladder|carcinoma of urinary bladder|cancer of the bladder|cancer of the urinary bladder|carcinoma of the bladder|bladder cancer|urinary bladder cancer|cancer of urinary bladder DOID:4007|HP:0002862|SCTID:255108000|NCIT:C4912|EFO:0000292|UMLS:C0699885 owl:Class MONDO:0030037 biolink:NamedThing neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures tmpak2llvmy_mondo_relaxed.owl Glycosylphosphatidylinositol Biosynthesis Defect 22|NEDHCAS|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES|neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879 owl:Class MONDO:0015343 biolink:NamedThing secondary acute transverse myelitis Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease. tmpak2llvmy_mondo_relaxed.owl disease-associated transverse myelitis UMLS:CN199396|Orphanet:139420|ICD10:G37.3 owl:Class MONDO:0015342 biolink:NamedThing acute transverse myelitis Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM). tmpak2llvmy_mondo_relaxed.owl Orphanet:139417|MESH:D009188|NCIT:C128378|ICD9:323.9|ICD10:G37.3|UMLS:C0270627|ICD9:341.20|SCTID:47000000 owl:Class MONDO:0024666 biolink:NamedThing benign epithelial skin neoplasm A form of epithelial skin neoplasm without malignant characteristics. tmpak2llvmy_mondo_relaxed.owl benign skin epithelium tumor|epithelial skin neoplasm, benign|benign epithelial skin neoplasm|benign skin epithelium neoplasm|benign epithelial skin tumor NCIT:C7341|UMLS:C0345981 owl:Class GO:0032885 biolink:NamedThing regulation of polysaccharide biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of polysaccharides. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7566 biolink:NamedThing MYF6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010523 biolink:NamedThing X-linked reticulate pigmentary disorder X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. tmpak2llvmy_mondo_relaxed.owl amyloidosis, familial cutaneous|PDR|XLPDR|X-linked cutaneous amyloidosis|pigmentary disorder, reticulate, with systemic manifestations|Partington disease|pigmentary disorder, reticulate, with systemic manifestations, X-linked|familial cutaneous amyloidosis ICD10:E85.0+|ICD10:L99.0*|Orphanet:85453|MESH:C564461|SCTID:717224002|OMIM:301220 owl:Class MONDO:0015710 biolink:NamedThing immune dysregulation disease with immunodeficiency tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:169361|UMLS:CN200214 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency due to a defect in adaptive immunity' MONDO_0015823 owl:Class UBERON:0004388 biolink:NamedThing epiphysis of fibula An epiphysis that is part of a fibula [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl fibula epiphysis owl:Class MONDO:0012376 biolink:NamedThing autosomal recessive nonsyndromic deafness 55 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 55|deafness, autosomal recessive 55|DFNB55|autosomal recessive deafness 55 DOID:0110510|ICD10:H90.3|MESH:C538203|OMIM:609952|GARD:0009919 owl:Class GO:0042320 biolink:NamedThing regulation of circadian sleep/wake cycle, REM sleep Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep. tmpak2llvmy_mondo_relaxed.owl regulation of REM sleep owl:Class GO:0045187 biolink:NamedThing regulation of circadian sleep/wake cycle, sleep Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpak2llvmy_mondo_relaxed.owl regulation of sleep owl:Class MONDO:0019556 biolink:NamedThing pressure-induced localized lipoatrophy Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present. tmpak2llvmy_mondo_relaxed.owl semicircular lipoatrophy|lipoatrophia semicircularis ICD10:E88.1|Orphanet:90160|SCTID:238898001|UMLS:CN227652 owl:Class MONDO:0019194 biolink:NamedThing localized lipodystrophy Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body. tmpak2llvmy_mondo_relaxed.owl drug-induced localized lipodystrophy (subtype)|idiopathic localized lipodystrophy (subtype)|centrifugal lipodystrophy (subtype)|panniculitis and localized lipodystrophy (subtype)|focal lipodystrophy|pressure-induced localized lipoatrophy (subtype) GARD:0005867|NCIT:C131814|UMLS:CN227583|ICD10:E88.1|UMLS:C4329999|Orphanet:79088 https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy owl:Class UBERON:0001208 biolink:NamedThing submucosa of large intestine A submucosa that is part of a large intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl large intestine submucosa|tela submucosa intestini crassi|submucous layer of large intestine|large intestinal submucosa owl:Class UBERON:0009566 biolink:NamedThing intestinal submucosa A submucosa that is part of a intestine. tmpak2llvmy_mondo_relaxed.owl submucosa of intestine owl:Class GO:0048818 biolink:NamedThing positive regulation of hair follicle maturation Any process that activates or increases the frequency, rate or extent of hair follicle maturation. tmpak2llvmy_mondo_relaxed.owl up-regulation of hair follicle maturation|activation of hair follicle maturation|stimulation of hair follicle maturation|up regulation of hair follicle maturation|upregulation of hair follicle maturation owl:Class GO:0051798 biolink:NamedThing positive regulation of hair follicle development Any process that activates or increases the frequency, rate or extent of hair follicle development. tmpak2llvmy_mondo_relaxed.owl stimulation of hair follicle development|upregulation of hair follicle development|activation of hair follicle development|up-regulation of hair follicle development|up regulation of hair follicle development owl:Class MONDO:0009405 biolink:NamedThing cervical hypertrichosis-peripheral neuropathy syndrome Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. tmpak2llvmy_mondo_relaxed.owl cervical hypertrichosis peripheral neuropathy|hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy GARD:0001226|UMLS:C2931676|UMLS:C1855902|OMIM:239840|Orphanet:2218|MESH:C565492 https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy owl:Class UBERON:0004254 biolink:NamedThing forelimb zeugopod muscle Any muscle organ that is part of a forelimb zeugopod (lower arm)[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lower arm muscle|muscle of forearm|wing zeugopod muscle|forearm muscle owl:Class MONDO:0024311 biolink:NamedThing cancer affecting bone of limb skeleton A cancer that involves the limb bone. tmpak2llvmy_mondo_relaxed.owl malignant limb bone neoplasm|cancer of limb bone|limb bone cancer|malignant neoplasm of limb bone ICD10:C40 owl:Class BFO:0000034 biolink:NamedThing function tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000016 biolink:NamedThing disposition tmpak2llvmy_mondo_relaxed.owl Disposition disposition BFO 2 Reference: Dispositions exist along a strength continuum. Weaker forms of disposition are realized in only a fraction of triggering cases. These forms occur in a significant number of cases of a similar type. b is a disposition means: b is a realizable entity & b’s bearer is some material entity & b is such that if it ceases to exist, then its bearer is physically changed, & b’s realization occurs when and because this bearer is in some special physical circumstances, & this realization occurs in virtue of the bearer’s physical make-up. (axiom label in BFO2 Reference: [062-002]) certain people have a predisposition to colon cancer|an atom of element X has the disposition to decay to an atom of element Y|children are innately disposed to categorize objects in certain ways.|the cell wall is disposed to filter chemicals in endocytosis and exocytosis (forall (x t) (if (and (RealizableEntity x) (existsAt x t)) (exists (y) (and (MaterialEntity y) (specificallyDepends x y t))))) // axiom label in BFO2 CLIF: [063-002] |(forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002] If b is a realizable entity then for all t at which b exists, b s-depends_on some material entity at t. (axiom label in BFO2 Reference: [063-002]) owl:Class MONDO:0004492 biolink:NamedThing mediastinitis An inflammatory process affecting the mediastinum. tmpak2llvmy_mondo_relaxed.owl ICD10:J98.51|NCIT:C26827|ICD9:519.2|UMLS:C0025064|ICD10:J98.5|SCTID:47597000|DOID:819|MESH:D008480 owl:Class MONDO:0003975 biolink:NamedThing Littre gland carcinoma A carcinoma involving a male urethral gland. tmpak2llvmy_mondo_relaxed.owl carcinoma of male urethral gland|carcinoma of LittrC) glands|carcinoma of Littre glands|male urethral gland carcinoma|carcinoma of Littré glands DOID:6721|NCIT:C39865|UMLS:C1516285 owl:Class MONDO:0004197 biolink:NamedThing male urethral cancer A cancer involving a male urethra. tmpak2llvmy_mondo_relaxed.owl malignant male urethra neoplasm|cancer of male urethra|male urethra cancer|Male urethral malignant neoplasm|malignant neoplasm of male urethra DOID:736|NCIT:C39867|UMLS:C1518164 owl:Class MONDO:0001263 biolink:NamedThing histoplasmosis retinitis An retinitis caused by infection with Histoplasma capsulatum. tmpak2llvmy_mondo_relaxed.owl Histoplasma capsulatum caused retinitis|histoplasmosis with retinitis|Histoplasma capsulatum retinitis ICD9:115.92|DOID:11316|SCTID:187058000|UMLS:C0153278 owl:Class MONDO:0020010 biolink:NamedThing infectious disease of the nervous system A infectious disease that involves the nervous system. tmpak2llvmy_mondo_relaxed.owl nervous system infectious disorder|nervous system infectious disease Orphanet:98010|NCIT:C27590|UMLS:C0597039|SCTID:128116006|ICD9:349.89 owl:Class GO:0015136 biolink:NamedThing sialic acid transmembrane transporter activity Enables the transfer of sialic acid from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901505 biolink:NamedThing carbohydrate derivative transmembrane transporter activity Enables the transfer of carbohydrate derivative from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl carbohydrate derivative transporter activity owl:Class HGNC:2993 biolink:NamedThing DONSON tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004746 biolink:NamedThing myopathy of extraocular muscle A myopathy that involves the extra-ocular muscle. tmpak2llvmy_mondo_relaxed.owl myopathy of extra-ocular muscle|extra-ocular muscle myopathy|myopathy of extraocular muscles DOID:929|UMLS:C0155286|SCTID:57130002|ICD9:376.82|ICD10:H05.82 owl:Class MONDO:0005336 biolink:NamedThing myopathy A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. tmpak2llvmy_mondo_relaxed.owl ICD10:G72.9|DOID:423|SCTID:129565002|ICD9:728.3|ICD9:359.8|NCIT:C101216|UMLS:C0026848|EFO:0004145|ICD9:359.9|ICD10:M62.9|ICD10:M60-M63 Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition owl:Class MONDO:0002565 biolink:NamedThing myelitis An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence. tmpak2llvmy_mondo_relaxed.owl spinal cord inflammation|inflammation of spinal cord DOID:322|NCIT:C26832|EFO:1001472|MESH:D009187|UMLS:C0026975|GARD:0007130|SCTID:41370002|ICD9:323.9 https://rarediseases.info.nih.gov/diseases/7130/myelitis owl:Class MONDO:0002545 biolink:NamedThing spinal cord disease A disease involving the spinal cord. tmpak2llvmy_mondo_relaxed.owl disorder of spinal cord|spinal cord disease|disease of the spinal cord|disease or disorder of spinal cord|spinal cord disease or disorder|myelopathy|disease of spinal cord|spinal cord disorder ICD9:336.8|MESH:D013118|UMLS:C0037928|NCIT:C97110|DOID:319|ICD9:336.9|ICD10:G95.9|SCTID:48522003 owl:Class MONDO:0010261 biolink:NamedThing microphthalmia, syndromic 2 tmpak2llvmy_mondo_relaxed.owl MCOPS2|ANOP2 (formerly)|microphthalmia, cataracts, radiculomegaly, and septal heart defects|MAA2 (formerly)|OFCD syndrome|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia cataracts radiculomegaly and septal heart defects|microphthalmia syndromic 2|syndromic microphthalmia type 2|microphthalmia, syndromic type 2|oculofaciocardiodental syndrome|microphthalmia, syndromic 2 ICD9:759.89|GARD:0004628|ICD10:Q87.8|OMIM:300166|SCTID:699300009|Orphanet:2712 https://github.com/monarch-initiative/mondo/issues/2999 owl:Class MONDO:0015336 biolink:NamedThing malformation syndrome with odontal and/or periodontal component tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN199366|Orphanet:139042 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class UBERON:0002418 biolink:NamedThing cartilage tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. tmpak2llvmy_mondo_relaxed.owl cartilaginous tissue|portion of cartilage tissue|cartilage tissue|cartilage|cartilages|chondrogenic tissue owl:Class UBERON:0004755 biolink:NamedThing skeletal tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002513 biolink:NamedThing kidney benign neoplasm A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the kidney|benign tumor of the kidney|benign kidney tumor|benign neoplasm of kidney|renal and ureteral tumor|benign renal neoplasm|kidney benign neoplasm|renal tumor, benign|benign tumor of kidney|renal neoplasm, benign|benign kidney neoplasm|benign renal tumor DOID:3116|ICD9:223.0|NCIT:C4778|SCTID:92165001|EFO:1000111 owl:Class MONDO:0004180 biolink:NamedThing benign urinary system neoplasm A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. tmpak2llvmy_mondo_relaxed.owl benign urinary system neoplasm|benign neoplasm of the urinary tract|urinary tract neoplasm|tumor of the urinary system|urinary system benign neoplasm|tumor of urinary tract|neoplasm of urinary system|benign tumor of urinary tract|benign neoplasm of urinary tract|renal system benign neoplasm|benign urinary tract neoplasm|benign urinary tract tumor|benign tumor of the urinary tract ICD9:223.9|NCIT:C4893|MESH:D014571|DOID:731|SCTID:92468007|ICD9:223.89 owl:Class MONDO:0009025 biolink:NamedThing apparent mineralocorticoid excess Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. tmpak2llvmy_mondo_relaxed.owl Ame1|cortisol 11-Beta-ketoreductase deficiency|apparent mineralocorticoid EXCESS|AME|apparent mineralocorticoid excess|AME 1|11 Beta-hydroxysteroid dehydrogenase type 2 deficiency|cortisol 11-beta-ketoreductase deficiency|ape|11-beta-hydroxysteroid dehydrogenase deficiency type 2|Ulick syndrome UMLS:C2936861|OMIM:218030|MESH:C537422|ICD10:E26.1|Orphanet:320|DOID:0090121|GARD:0000433|UMLS:CN203981|NCIT:C131083|UMLS:C3887949|SCTID:703256004 https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess owl:Class MONDO:0005495 biolink:NamedThing adrenal gland disease A disease involving the adrenal gland. tmpak2llvmy_mondo_relaxed.owl adrenal gland disease|adrenal gland diseases|adrenal gland disease or disorder|adrenal gland disorder|disease or disorder of adrenal gland|disease of adrenal gland|adrenal gland disorders|disorder of adrenal gland NCIT:C26690|MESH:D000307|ICD10:E27.9|ICD9:255|ICD9:255.9|EFO:0005539|ICD9:255.8|SCTID:30171000|DOID:9553 owl:Class MONDO:0100211 biolink:NamedThing growth hormone insensitivity with immune dysregulation 1, autosomal recessive tmpak2llvmy_mondo_relaxed.owl growth hormone insensitivity with immunodeficiency|Laron syndrome due to postreceptor defect|Laron syndrome with immunodeficiency|Laron-like syndrome|growth hormone insensitivity due to postreceptor defect|short stature due to STAT5b deficiency OMIM:245590|UMLS:C4510411|UMLS:C1855548|ICD10:D82.8|ICD10:E34.3|SCTID:724179008|Orphanet:220465|MESH:C537871 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0023369 biolink:NamedThing disease of facial skeleton A disease that involves the facial skeleton. tmpak2llvmy_mondo_relaxed.owl disorder of facial skeleton|maxillofacial anomaly|maxillo-facial disease|facial skeleton disease|disease of facial skeleton|disease or disorder of facial skeleton|facial skeleton disease or disorder owl:Class HGNC:10536 biolink:NamedThing SARDH tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17284 biolink:NamedThing POT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006003 biolink:NamedThing uterine corpus cancer A malignant neoplasm involving the body of uterus. tmpak2llvmy_mondo_relaxed.owl cancer of body of uterus|malignant neoplasm of body of uterus|uterine corpus cancer|malignant body of uterus neoplasm|cancer of the corpus uteri|body of uterus cancer|uterine (including endometrial) cancer|corpus uteri cancer|endometrial cancer DOID:9460|ICD10:C54|NCIT:C61574|SCTID:371972005|ICD10:C54.9|EFO:0007532|ICD9:182 Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer. owl:Class MONDO:0021254 biolink:NamedThing corpus uteri neoplasm A neoplasm (disease) that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl neoplasm of corpus uteri|neoplasm of uterine body|uterine body tumor|tumor of uterine body|tumor of body of uterus|tumor of the corpus uteri|neoplasm of the uterine corpus|tumor of uterine corpus|body of uterus tumor|tumor of the uterine corpus|neoplasm of the body of uterus|neoplasm of body of uterus|neoplasm of uterine corpus|tumor of corpus uteri|neoplasm of the corpus uteri|tumor of the uterine body|neoplasm of the uterine body|uterine corpus tumor|body of uterus neoplasm (disease)|body of uterus neoplasm|uterine corpus neoplasm|uterine body neoplasm|corpus uteri tumor SCTID:126909004|UMLS:C1263777|NCIT:C6300 MONDO:0021256|MONDO:0021255 owl:Class MONDO:0014263 biolink:NamedThing 8q24.3 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 8Q24.3 deletion syndrome|VRJS|Verheij syndrome Orphanet:508488|UMLS:C3810023|OMIM:615583|GARD:0012814 owl:Class MONDO:0015335 biolink:NamedThing orofacial clefting syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN199365|Orphanet:139039 owl:Class MONDO:0010594 biolink:NamedThing inherited genitourinary tract anomalies tmpak2llvmy_mondo_relaxed.owl inherited genitourinary tract anomalies (disease)|genitourinary tract anomalies inherited genitourinary tract anomalies (disease) MESH:C564424|HP:0000119|OMIM:305690 owl:Class MONDO:0021145 biolink:NamedThing disease of genitourinary system A disease that involves the genitourinary system. tmpak2llvmy_mondo_relaxed.owl urogenital disorder|disease of genitourinary system|syndrome of the genitourinary system|genitourinary system disease or disorder|urogenital disease|disease or disorder of genitourinary system|disorder of genitourinary system|genitourinary system disease|disorder of the genitourinary system UMLS:C0080276|ICD10:N00.N99|SCTID:42030000 owl:Class MONDO:0012231 biolink:NamedThing Charcot-Marie-Tooth disease type 2A2 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2A2|Charcot-Marie-Tooth disease, axonal, type 2A2|Charcot-Marie-Tooth neuropathy, type 2A2|Charcot-Marie-Tooth disease, neuronal, type 2A2|MFN2 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2|HMSN IIa2|CMT2A2A|Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2|CMT2A2|autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2|hereditary motor and sensory neuropathy IIA2|hereditary motor and sensory neuropathy IIa2|autosomal dominant Charcot-Marie-Tooth disease type 2A2|HMSN2A2|HMSN IIA2|Charcot-Marie-Tooth disease type 2A2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A|Charcot-Marie-Tooth neuronal type 2A2 NCIT:C150646|UMLS:C1836485|DOID:0110155|OMIM:609260|Orphanet:99947|SCTID:764850002|MESH:C563757|ICD10:G60.0 owl:Class GO:0050309 biolink:NamedThing sugar-terminal-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. tmpak2llvmy_mondo_relaxed.owl xylitol-5-phosphatase activity|sugar-omega-phosphate phosphohydrolase activity owl:Class GO:0050308 biolink:NamedThing sugar-phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. tmpak2llvmy_mondo_relaxed.owl sugar-phosphate phosphatase activity|sugar-phosphate phosphohydrolase activity owl:Class MONDO:0015776 biolink:NamedThing rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. tmpak2llvmy_mondo_relaxed.owl RCDP|rhizomelic chondrodysplasia punctata syndrome|rhizomelic dwarfism|chondrodysplasia punctata, rhizomelic form|rhizomelic chondrodysplasia punctata SCTID:56692003|UMLS:C0282529|MESH:D018902|ICD10:Q77.3|ICD10:E71.540|OMIMPS:215100|Orphanet:177|DOID:2580|GARD:0013160|NCIT:C85047 https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata owl:Class MONDO:0017986 biolink:NamedThing disorder of plasmalogens biosynthesis tmpak2llvmy_mondo_relaxed.owl disorder of plasmalogens biosynthesis Orphanet:3276|UMLS:CN237437 owl:Class HGNC:9940 biolink:NamedThing RDH5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019669 biolink:NamedThing hypochondrogenesis tmpak2llvmy_mondo_relaxed.owl ICD10:Q77.0|DOID:0080044|Orphanet:93297 owl:Class MONDO:0023603 biolink:NamedThing hereditary disorder of connective tissue An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. tmpak2llvmy_mondo_relaxed.owl hereditary connective tissue disorder|connective tissue hereditary disorder|Mendelian connective tissue disorder|Inherited disorder of connective tissue|Hereditary Connective Tissue Disorder|inherited disorder of connective tissue UMLS:C0410787|SCTID:363045008|NCIT:C97075 https://github.com/monarch-initiative/mondo/issues/3606 owl:Class MONDO:0015426 biolink:NamedThing Desbuquois dysplasia Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. tmpak2llvmy_mondo_relaxed.owl micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|DBQD|Desbuquois dysplasia|desbuquois syndrome DOID:0060462|UMLS:CN239270|UMLS:C0432242|ICD10:Q78.8|ICD9:756.9|GARD:0001818|Orphanet:1425|NCIT:C124056|SCTID:254099008|OMIMPS:251450 owl:Class PATO:0002254 biolink:NamedThing flattened A quality inhering in a bearer by virtue of the bearer's surface becoming more extended in a plane. tmpak2llvmy_mondo_relaxed.owl compressed owl:Class PATO:0001591 biolink:NamedThing curvature A surface shape quality inhering in a bearer by virtue of the bearer's exhibiting a degree of bending. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16257 biolink:NamedThing TUBB1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051224 biolink:NamedThing negative regulation of protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl down regulation of protein transport|downregulation of protein transport|down-regulation of protein transport|inhibition of protein transport owl:Class GO:1904950 biolink:NamedThing negative regulation of establishment of protein localization Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization. tmpak2llvmy_mondo_relaxed.owl down regulation of establishment of protein localization|inhibition of establishment of protein localisation|inhibition of protein positioning|down regulation of protein recruitment|downregulation of protein positioning|negative regulation of establishment of protein localisation|down regulation of protein positioning|inhibition of establishment of protein localization|downregulation of establishment of protein localisation|down-regulation of protein positioning|down-regulation of establishment of protein localization|negative regulation of protein recruitment|inhibition of protein recruitment|down regulation of establishment of protein localisation|downregulation of protein recruitment|down-regulation of protein recruitment|down-regulation of establishment of protein localisation|downregulation of establishment of protein localization|negative regulation of protein positioning owl:Class HGNC:18746 biolink:NamedThing SLURP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004398 biolink:NamedThing mediastinal schwannoma A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative. tmpak2llvmy_mondo_relaxed.owl neurilemmoma of mediastinum|mediastinal schwannoma|schwannoma of mediastinum|benign schwannoma of mediastinum|benign mediastinal neurilemmoma|mediastinum schwannoma|benign schwannoma of the mediastinum|schwannoma of the mediastinum|mediastinal neurilemmoma|benign neurilemmoma of mediastinum|neurilemmoma of the mediastinum|benign mediastinal schwannoma|benign neurilemmoma of the mediastinum NCIT:C6643|DOID:7922|UMLS:C1334679|DOID:6175 owl:Class MONDO:0021521 biolink:NamedThing benign neoplasm of mediastinum A benign neoplasm that involves the mediastinum. tmpak2llvmy_mondo_relaxed.owl benign mediastinal tumor|benign tumor of the mediastinum|benign tumor of mediastinum|benign mediastinal neoplasm|benign neoplasm of the mediastinum|mediastinum benign neoplasm NCIT:C3604|SCTID:92214000|ICD9:212.5|UMLS:C0153956|ICD10:D15.2 owl:Class MONDO:0020210 biolink:NamedThing syndromic hyperopia A hyperopia that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic hyperopia|syndrome associated with hyperopia Orphanet:98622|UMLS:CN227820 owl:Class MONDO:0004891 biolink:NamedThing hyperopia A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl hypermetropia|Far-sightedness DOID:9834|ICD10:H52.0|ICD9:367.0|MESH:D006956|SCTID:38101003|UMLS:C0020490 owl:Class MONDO:0004853 biolink:NamedThing gonococcal endophthalmia tmpak2llvmy_mondo_relaxed.owl UMLS:C0153213|ICD10:A54.39|ICD9:098.42|SCTID:111807001|DOID:9698 owl:Class MONDO:0000527 biolink:NamedThing colon adenoma An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpak2llvmy_mondo_relaxed.owl adenoma of the colon|adenoma of colon|colonic adenoma|colon adenoma DOID:0050912|UMLS:C0850572|NCIT:C3864 owl:Class MONDO:0012923 biolink:NamedThing congenital generalized lipodystrophy type 3 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene. tmpak2llvmy_mondo_relaxed.owl CAV1 congenital generalized lipodystrophy (disease)|type 3 Berardinelli-Seip congenital lipodystrophy|Berardinelli-Seip congenital lipodystrophy, type 3|lipodystrophy, Berardinelli-Seip congenital, type 3|congenital generalized lipodystrophy (disease) caused by mutation in CAV1|Berardinelli-Seip congenital lipodystrophy type 3|BSCL3|lipodystrophy, congenital generalized, type 3|CGL3 ICD10:E88.1|OMIM:612526|DOID:0111137|MESH:C567282|UMLS:C2675861|GARD:0013389 https://rarediseases.info.nih.gov/diseases/13389/congenital-generalized-lipodystrophy-type-3 owl:Class MONDO:0018883 biolink:NamedThing Berardinelli-Seip congenital lipodystrophy Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance. tmpak2llvmy_mondo_relaxed.owl total lipodystrophy|Seip-Bernardinelli syndrome|GCL|generalized congenital lipodystrophy|Berardinelli Seip syndrome|Lawrence-Seip syndrome|Berardinelli lipodystrophy syndrome|BSCL|Brunzell syndrome|congenital Generalized lipodystrophy|lipoatrophic diabetes|Beradinelli-Seip syndrome NCIT:C84594|SCTID:127012008|ICD10:E88.1|MedDRA:10024603|Orphanet:528|ICD9:250.80 owl:Class MONDO:0007995 biolink:NamedThing microphthalmia, isolated, with cataract 1 tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated, with cataract 1|congenital cataract with microphthalmia|microphthalmia with cataract 1|cataract, congenital, with microphthalmia|MCOPCT1 MESH:C563582|UMLS:C1834919|OMIM:156850|GARD:0009610 owl:Class MONDO:0016764 biolink:NamedThing isolated anophthalmia-microphthalmia syndrome Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. tmpak2llvmy_mondo_relaxed.owl clinical anophthalmia|MAC spectrum|isolated anophthalmia - microphthalmia|nonsyndromic anophthalmia-microphthalmia syndrome|primitive anophthalmia|microphthalmia-anophthalmia-coloboma spectrum|isolated pure microphthalmia ICD10:Q11.2|UMLS:CN202019|Orphanet:2542|ICD10:Q11.0|GARD:0012085|ICD10:Q11.1 owl:Class NCBITaxon:317865 biolink:NamedThing Rickettsia conorii subsp. indica tmpak2llvmy_mondo_relaxed.owl PMID:15766388|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:781 biolink:NamedThing Rickettsia conorii tmpak2llvmy_mondo_relaxed.owl PMID:15879256|GC_ID:11|PMID:15766388 ncbi_taxonomy owl:Class UBERON:0000331 biolink:NamedThing ileal mucosa A mucosa that is part of a ileum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ileum mucosa of organ|mucous membrane of ileum|ileal mucous membrane|organ mucosa of ileum|ileum mucosa|ileum organ mucosa|mucosa of ileum|mucosa of organ of ileum|ileum mucous membrane owl:Class UBERON:0003258 biolink:NamedThing endoderm of foregut An endoderm that is part of a foregut [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl foregut endoderm owl:Class UBERON:0005911 biolink:NamedThing endo-epithelium Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA] tmpak2llvmy_mondo_relaxed.owl endoepithelium|endoderm-derived epithelium owl:Class MONDO:0008669 biolink:NamedThing vulvovaginitis, allergic seminal tmpak2llvmy_mondo_relaxed.owl vulvovaginitis, allergic seminal OMIM:193450|UMLS:C1860357|MESH:C565993 owl:Class MONDO:0005271 biolink:NamedThing allergic disease An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. tmpak2llvmy_mondo_relaxed.owl type I hypersensitivity disease|allergic reaction|allergic disease or disorder|hypersensitivity reaction type I disease|disorder of type I hypersensitivity|allergic response|hypersensitivity|allergic hypersensitivity disease|allergic form of immune system disease|allergic form of disease or disorder|allergy EFO:0003785|NCIT:C114476|MESH:D006967|ICD9:995.3|DOID:1205|UMLS:C1527304|SCTID:609328004|ICD10:T78.40|ICD9:V15.09 owl:Class CHEBI:33583 biolink:NamedThing noble gas molecular entity A main group molecular entity containing one or more atoms of any noble gas. tmpak2llvmy_mondo_relaxed.owl noble gas compounds|noble gas molecular entity|noble gas molecular entities owl:Class CHEBI:33579 biolink:NamedThing main group molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. tmpak2llvmy_mondo_relaxed.owl main group compounds|main group molecular entities owl:Class MONDO:0033649 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 14 tmpak2llvmy_mondo_relaxed.owl MC4DN14 OMIM:619058 owl:Class MONDO:0033885 biolink:NamedThing mitochondrial complex IV deficiency, nuclear-type tmpak2llvmy_mondo_relaxed.owl OMIMPS:220110 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016924 biolink:NamedThing partial duplication of chromosome 4 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome type 4|partial trisomy of chromosome 4 SCTID:726342002|Orphanet:262206 owl:Class UBERON:0010171 biolink:NamedThing strand of hair of face A strand of hair that is part of a face. tmpak2llvmy_mondo_relaxed.owl hair of face|face hair|facial hair|face hair strand owl:Class UBERON:0016446 biolink:NamedThing hair of head A strand of hair that is part of a head. tmpak2llvmy_mondo_relaxed.owl hair of scalp|head hair owl:Class MONDO:0017882 biolink:NamedThing Omsk hemorrhagic fever Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis. tmpak2llvmy_mondo_relaxed.owl ICD9:065.1|GARD:0008254|MESH:D006481|Orphanet:319266|DOID:992|SCTID:48113006|MedDRA:10030310|UMLS:C0019103|ICD10:A98.1 https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever owl:Class MONDO:0018087 biolink:NamedThing viral hemorrhagic fever A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging. tmpak2llvmy_mondo_relaxed.owl VHF|hemorrhagic fever|VHFs|haemorrhagic fever|hemorrhagic fevers|viral haemorrhagic fever|haemorrhagic fevers, viral UMLS:C0019104|NCIT:C36170|MESH:D006482|GARD:0005494|SCTID:240523007|UMLS:CN204409|Orphanet:341 https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever owl:Class GO:0030334 biolink:NamedThing regulation of cell migration Any process that modulates the frequency, rate or extent of cell migration. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000145 biolink:NamedThing regulation of cell motility Any process that modulates the frequency, rate or extent of cell motility. tmpak2llvmy_mondo_relaxed.owl regulation of cell movement|regulation of cell locomotion|regulation of movement of a cell owl:Class HGNC:5228 biolink:NamedThing DNAJB2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002840 biolink:NamedThing Lymphadenitis Inflammation of a lymph node. tmpak2llvmy_mondo_relaxed.owl Inflammation of the lymph nodes MSH:D008199|UMLS:C0024205|SNOMEDCT_US:19471005 human_phenotype owl:Class HP:0012649 biolink:NamedThing Increased inflammatory response A abnormal increase in the inflammatory response to injury or infection. tmpak2llvmy_mondo_relaxed.owl UMLS:C4022803 peter 2014-02-01T01:29:58Z human_phenotype owl:Class MONDO:0011219 biolink:NamedThing Fried's tooth and nail syndrome tmpak2llvmy_mondo_relaxed.owl ECTD8|ectodermal dysplasia 8, hair/tooth/nail type DOID:0111661|UMLS:C0406715|SCTID:239020008|Orphanet:99672|OMIM:602401 owl:Class PATO:0002070 biolink:NamedThing affinity A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002182 biolink:NamedThing molecular quality A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. tmpak2llvmy_mondo_relaxed.owl relational molecular quality owl:Class CHEBI:36685 biolink:NamedThing chlorocarboxylic acid A carboxylic acid containing at least one chloro group. tmpak2llvmy_mondo_relaxed.owl chlorocarboxylic acids owl:Class CHEBI:33575 biolink:NamedThing carboxylic acid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. tmpak2llvmy_mondo_relaxed.owl Karbonsaeure|acido carboxilico|carboxylic acid|acide carboxylique|Carbonsaeure|Carbonsaeuren|RC(=O)OH|acidos carboxilicos|acides carboxyliques|carboxylic acids owl:Class UBERON:0002423 biolink:NamedThing hepatobiliary system The part of the digestive system that contains the liver and the biliary system tmpak2llvmy_mondo_relaxed.owl liver and biliary system|hepaticobiliary system|liver/biliary system owl:Class MONDO:0002603 biolink:NamedThing angiomyolipoma A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. tmpak2llvmy_mondo_relaxed.owl angiomyolipoma (morphologic abnormality) UMLS:C0206633|DOID:3314|NCIT:C3734|ICDO:8860/0|GARD:0012024|MESH:D018207 owl:Class MONDO:0006359 biolink:NamedThing neoplasm with perivascular epithelioid cell differentiation A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. tmpak2llvmy_mondo_relaxed.owl tumor with perivascular epithelioid cell differentiation|neoplasm with perivascular epithelioid cell differentiation|PEComa|perivascular epithelioid cell tumor UMLS:C1300127|DOID:2643|NCIT:C38150|ONCOTREE:PECOMA|Orphanet:595133|ICD10:D21.9|MESH:D054973|EFO:1000464 MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). owl:Class HsapDv:0000136 biolink:NamedThing 42-year-old human stage Adult stage that refers to an adult who is over 42 and under 43. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009318 biolink:NamedThing Hallermann-Streiff syndrome Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. tmpak2llvmy_mondo_relaxed.owl Hallerman - Streiff syndrome|HSS|Hallermann Streiff Francois syndrome|Hallermann syndrome|François dyscephalic syndrome|FranC'ois dyscephalic syndrome|Hallermann Streiff syndrome|Francois dyscephalic syndrome|Hallermann-Streiff syndrome|oculomandibulofacial syndrome|Hallermann's syndrome GARD:0000288|ICD10:Q87.0|OMIM:234100|UMLS:C0018522|DOID:4534|NCIT:C84746|Orphanet:2108|MESH:D006210|SCTID:7903009 https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome owl:Class MONDO:0015293 biolink:NamedThing segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. tmpak2llvmy_mondo_relaxed.owl SOLAMEN syndrome SCTID:763867001|Orphanet:137608|UMLS:CN199243 owl:Class MONDO:0016235 biolink:NamedThing complex vascular malformation with associated anomalies tmpak2llvmy_mondo_relaxed.owl hemangiolymphangioma 2022-03-01 Orphanet:211277 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: vascular anomaly' MONDO_0019063 owl:Class MONDO:0019896 biolink:NamedThing Kleefstra syndrome due to 9q34 microdeletion tmpak2llvmy_mondo_relaxed.owl Kleefstra syndrome due to 9q subtelomeric deletion|Kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|9qSTDS|Kleefstra syndrome due to monosomy 9q34 UMLS:CN206831|Orphanet:96147|ICD10:Q87.8 owl:Class MONDO:0002105 biolink:NamedThing toxic megacolon An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis. tmpak2llvmy_mondo_relaxed.owl ICD9:564.7|MESH:D008532|SCTID:28536002|DOID:1770|ICD10:K59.3|UMLS:C0025162|ICD10:K59.31 owl:Class MONDO:0001273 biolink:NamedThing megacolon An abnormal dilation of the colon not due to obstruction. tmpak2llvmy_mondo_relaxed.owl dilatation of colon NCIT:C34810|ICD10:K59.3|MESH:D008531|SCTID:33995003|DOID:11372|ICD9:564.7 owl:Class MONDO:0060690 biolink:NamedThing phenytoin toxicity tmpak2llvmy_mondo_relaxed.owl arene oxide detoxification defect|fetal hydantoin syndrome|phenytoin toxicity|diphenylhydantoin, defect in hydroxylation of OMIM:617955 owl:Class UBERON:0007252 biolink:NamedThing intervertebral disk of cervical vertebra An intervertebral disk that is part of a cervical region of vertebral column. A cervical intervertebral disk connects at least one cervical vertebra, either to another cervical vertebra, or at one point on the vertebral colummn, to a thoracic vertebra tmpak2llvmy_mondo_relaxed.owl cervical intervertebral disc|intervertebral disc of cervical region owl:Class UBERON:2001457 biolink:NamedThing postcranial axial cartilage Cartilage which is part of the axial skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000931 biolink:NamedThing endometrial disease A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma. tmpak2llvmy_mondo_relaxed.owl disorder of endometrium|endometrium disease|disease or disorder of endometrium|disease of endometrium|endometrial disorder|endometrium disease or disorder NCIT:C3504|DOID:1005|SCTID:418632009 owl:Class MONDO:0014276 biolink:NamedThing combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations. tmpak2llvmy_mondo_relaxed.owl combined immunodeficiency due to CD3gamma deficiency|immunodeficiency type 17|immunodeficiency 17|SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive|CD3 deficiency|CD3gamma deficiency|IMD17|CD3-gamma deficiency DOID:0060018|UMLS:C3810107|GARD:0009521|OMIM:615607|Orphanet:169082|SCTID:725135004|UMLS:C4510864|ICD10:D81.2 Editor note: check GARD https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency owl:Class MONDO:0018814 biolink:NamedThing non-severe combined immunodeficiency tmpak2llvmy_mondo_relaxed.owl non-SCID Orphanet:480549 owl:Class MONDO:0016561 biolink:NamedThing 1q44 microdeletion syndrome 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. tmpak2llvmy_mondo_relaxed.owl Del(1)(q44)|monosomy 1q44|chromosome 1q44 microdeletion syndrome GARD:0010943|UMLS:C4304540|UMLS:CN201644|SCTID:719649004|Orphanet:238769|ICD10:Q93.5 https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome owl:Class MONDO:0016900 biolink:NamedThing partial deletion of the long arm of chromosome 1 tmpak2llvmy_mondo_relaxed.owl partial monosomy of the long arm of chromosome 1|partial deletion of the long arm of chromosome type 1|partial monosomy of chromosome 1q|partial deletion of chromosome 1q 2021-01-01 Orphanet:262001|ICD10:Q93.5 Reason: duplicate. This will be merged with MONDO:0022756 chromosome 1q deletion owl:Class MONDO:0005665 biolink:NamedThing Bell's palsy Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. tmpak2llvmy_mondo_relaxed.owl facial palsy|paralysis Of Facial nerve|Bell's (facial) palsy|facial nerve paralysis|Bell palsy|nerve paralysis, Facial|facial nerve palsy|palsy of facial nerve UMLS:C0376175|ICD9:351.0|MESH:D020330|SCTID:193093009|DOID:12506|EFO:0007167|NCIT:C26769|ICD10:G51.0|GARD:0005906 owl:Class MONDO:0004743 biolink:NamedThing hyperhomocysteinemia A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. tmpak2llvmy_mondo_relaxed.owl hyperhomocysteinemia|homocysteinemia MESH:D020138|UMLS:C0598608|SCTID:419503008|NCIT:C84770|GARD:0008230|DOID:9279|UMLS:C3495426|OMIM:603174 https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia|https://github.com/monarch-initiative/mondo/issues/3247 owl:Class MONDO:0004737 biolink:NamedThing homocystinuria An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. tmpak2llvmy_mondo_relaxed.owl cystathionine synthase deficiency|cystathionine beta synthase deficiency|homocystinuria (disease)|CBS deficiency|homocystinuria homocystinuria (disease) GARD:0010770|NCIT:C84765|UMLS:C0019880|SCTID:11282001|ICD10:E72.11|HP:0002156|DOID:9263 owl:Class MONDO:0009578 biolink:NamedThing neurocutaneous melanocytosis Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death. tmpak2llvmy_mondo_relaxed.owl NCM|melanosis, neurocutaneous|NCMS|neurocutaneous melanosis|neurocutaneous melanosis syndrome|Neuromelanosis ICD10:D22.3|Orphanet:2481|ICD10:D22.6|MESH:C537387|ICD10:D22.4|OMIM:249400|ICD10:D22.7|GARD:0007186|ICD10:D22.5 owl:Class MONDO:0005073 biolink:NamedThing melanocytic nevus A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. tmpak2llvmy_mondo_relaxed.owl mole of skin|melanocytic Nevus|melanotic Nevus|nevus|mole Wikipedia:Nevus|EFO:0000625|SCTID:400096001|NCIT:C7570|MESH:D009506 owl:Class MONDO:0003115 biolink:NamedThing subglottic hemangioma A hemangioma arising from the subglottic area. tmpak2llvmy_mondo_relaxed.owl angioma of subglottis|subglottic hemangioma|subglottic angioma|subglottis hemangioma|subglottis angioma|hemangioma of the subglottis|hemangioma of subglottis|angioma of the subglottis NCIT:C6026|UMLS:C1336518|DOID:472 owl:Class MONDO:0021530 biolink:NamedThing benign neoplasm of subglottis A benign neoplasm that involves the subglottis. tmpak2llvmy_mondo_relaxed.owl benign subglottis tumor|benign neoplasm of the subglottis|subglottis benign neoplasm|benign subglottis neoplasm|benign subglottic neoplasm|benign tumor of the subglottis|benign subglottic tumor|benign tumor of subglottis SCTID:92412003|UMLS:C0345749|NCIT:C4427 owl:Class MONDO:0012676 biolink:NamedThing autosomal recessive osteopetrosis 4 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene. tmpak2llvmy_mondo_relaxed.owl osteopetrosis, infantile malignant 2|autosomal recessive osteopetrosis type 4|infantile malignant osteopetrosis 2|osteopetrosis infantile malignant 2|autosomal recessive osteopetrosis caused by mutation in CLCN7|OPTB4|CLCN7 autosomal recessive malignant osteopetrosis|CLCN7 autosomal recessive osteopetrosis|osteopetrosis, autosomal recessive 4|autosomal recessive malignant osteopetrosis caused by mutation in CLCN7|osteopetrosis, autosomal recessive type 4|osteopetrosis autosomal recessive 4 MESH:C566933|GARD:0005993|OMIM:611490|DOID:0110944 https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4 owl:Class MONDO:0019026 biolink:NamedThing autosomal recessive osteopetrosis An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. tmpak2llvmy_mondo_relaxed.owl autosomal recessive malignant osteopetrosis|malignant osteopetrosis|autosomal recessive osteopetrosis|autosomal recessive osteopetrosis (disease)|OPTB|infantile malignant osteopetrosis|osteopetrosis (disease), autosomal recessive SCTID:367489004|OMIMPS:259700|Orphanet:667|ICD10:Q78.2|NCIT:C129733 owl:Class MONDO:0003916 biolink:NamedThing overnutrition An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. tmpak2llvmy_mondo_relaxed.owl ICD9:278.8|UMLS:C1257763|SCTID:302872003|DOID:654|MESH:D044343 owl:Class MONDO:0005137 biolink:NamedThing nutritional disorder Any condition related to a disturbance between proper intake and utilization of nourishment. tmpak2llvmy_mondo_relaxed.owl nutritional disorder|nutrition disease DOID:374|SCTID:2492009|ICD9:783.9|MESH:D009748|EFO:0001069|UMLS:C3714509|NCIT:C26836 owl:Class MONDO:0011789 biolink:NamedThing familial meningioma A meningioma that is transmitted from the parents to an offspring. tmpak2llvmy_mondo_relaxed.owl familial meningioma|hereditary meningioma|hereditary meningioma (disease)|susceptibility to familial meningioma|meningioma, familial, susceptibility to OMIM:607174|UMLS:C1333989|NCIT:C5301|DOID:4586|MESH:C537443 owl:Class GO:0031328 biolink:NamedThing positive regulation of cellular biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular biosynthesis|positive regulation of cellular formation|up regulation of cellular biosynthetic process|positive regulation of cellular anabolism|upregulation of cellular biosynthetic process|positive regulation of cellular synthesis|stimulation of cellular biosynthetic process|up-regulation of cellular biosynthetic process|activation of cellular biosynthetic process owl:Class GO:0031326 biolink:NamedThing regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl regulation of cellular anabolism|regulation of cellular synthesis|regulation of cellular biosynthesis|regulation of cellular formation owl:Class MONDO:0018657 biolink:NamedThing pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome tmpak2llvmy_mondo_relaxed.owl CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA|CAPOK Orphanet:447961|UMLS:CN237716|OMIM:618373 owl:Class MONDO:0009791 biolink:NamedThing oral sensibility, disturbance of tmpak2llvmy_mondo_relaxed.owl impairment of oral perception|oral sensibility, disturbance of|disturbance of oral sensitivity OMIM:258800|GARD:0009476 https://rarediseases.info.nih.gov/diseases/9476/impairment-of-oral-perception owl:Class MONDO:0018185 biolink:NamedThing congenital anomaly of the great veins tmpak2llvmy_mondo_relaxed.owl Orphanet:363189 owl:Class MONDO:0019512 biolink:NamedThing congenital heart malformation A disease that has its basis in the disruption of heart development. tmpak2llvmy_mondo_relaxed.owl congenital non-syndromic heart malformation|heart development disease|disorder of heart development|rare congenital non-syndromic heart malformation|congenital heart malformation EFO:0005269|Orphanet:88991 owl:Class GO:0045621 biolink:NamedThing positive regulation of lymphocyte differentiation Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation. tmpak2llvmy_mondo_relaxed.owl up-regulation of lymphocyte differentiation|activation of lymphocyte differentiation|stimulation of lymphocyte differentiation|positive regulation of lymphocyte development|up regulation of lymphocyte differentiation|upregulation of lymphocyte differentiation owl:Class GO:0051053 biolink:NamedThing negative regulation of DNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpak2llvmy_mondo_relaxed.owl downregulation of DNA metabolic process|inhibition of DNA metabolic process|down-regulation of DNA metabolic process|down regulation of DNA metabolic process|negative regulation of DNA metabolism owl:Class NCBITaxon:43786 biolink:NamedThing Culicomorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7148 biolink:NamedThing Nematocera tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0002686 biolink:NamedThing negative regulation of leukocyte migration Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration. tmpak2llvmy_mondo_relaxed.owl down regulation of leukocyte migration|inhibition of leukocyte migration|downregulation of leukocyte migration|negative regulation of immune cell migration|negative regulation of leucocyte migration|down-regulation of leukocyte migration owl:Class OBO:CHR_9606-chrXq27 biolink:NamedThing chrXq27 (Human) tmpak2llvmy_mondo_relaxed.owl 148000000 138900000 hg38 owl:Class CHEBI:16042 biolink:NamedThing halide anion A monoatomic monoanion resulting from the addition of an electron to any halogen atom. tmpak2llvmy_mondo_relaxed.owl halide(1-)|a halide anion|Halide|halogen anion|halides|halide anions|halide ions|HX owl:Class CHEBI:79389 biolink:NamedThing monovalent inorganic anion Any inorganic anion with a valency of one. tmpak2llvmy_mondo_relaxed.owl monovalent inorganic anions owl:Class MONDO:0044651 biolink:NamedThing early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:496756 owl:Class MONDO:0015363 biolink:NamedThing autosomal recessive distal hereditary motor neuropathy Autosomal recessive form of distal hereditary motor neuropathy. tmpak2llvmy_mondo_relaxed.owl distal hereditary motor neuropathy, autosomal recessive|autosomal recessive dSMA|autosomal recessive dHMN|autosomal recessive distal spinal muscular atrophy DOID:0111197|Orphanet:140468|ICD10:G12.2|UMLS:CN228931 owl:Class UBERON:0011777 biolink:NamedThing nucleus of spinal cord A neural nucleus that is part of the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord nucleus owl:Class UBERON:0000125 biolink:NamedThing neural nucleus A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) tmpak2llvmy_mondo_relaxed.owl nervous system nucleus|neuronal nucleus|nucleus|neuraxis nucleus|nucleus of CNS|nucleus of neuraxis owl:Class MONDO:0020461 biolink:NamedThing epiblepharon tmpak2llvmy_mondo_relaxed.owl SCTID:253212001|ICD10:Q10.3|Orphanet:99169|ICD9:743.63 owl:Class MONDO:0020158 biolink:NamedThing eyelids malposition disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:98567|UMLS:CN227803 owl:Class HGNC:9949 biolink:NamedThing RECQL4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001523 biolink:NamedThing retinoid metabolic process The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. tmpak2llvmy_mondo_relaxed.owl retinoid metabolism owl:Class GO:0016101 biolink:NamedThing diterpenoid metabolic process The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units. tmpak2llvmy_mondo_relaxed.owl diterpenoid metabolism|diterpene metabolism|diterpene metabolic process owl:Class HGNC:5330 biolink:NamedThing IARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024416 biolink:NamedThing Neorickettsia infectious disease A disease caused by infection with Neorickettsia. tmpak2llvmy_mondo_relaxed.owl Neorickettsia disease or disorder|Neorickettsia caused disease or disorder|neorickettsiosis UMLS:C0276121|SCTID:78355003 owl:Class MONDO:0017879 biolink:NamedThing hantavirus pulmonary syndrome An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems. tmpak2llvmy_mondo_relaxed.owl HARDS|Hantavirus-associated respiratory distress syndrome|Hantavirus|four corners hantavirus ICD9:480.8|ICD10:J17.1*|ICD10:B33.4+|NCIT:C84747|EFO:0007296|UMLS:C0243025|SCTID:120639003|GARD:0000069|MedDRA:10019143|Orphanet:319247|DOID:14472|MESH:D018804 owl:Class MONDO:0005780 biolink:NamedThing hantavirus infectious disease Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. tmpak2llvmy_mondo_relaxed.owl infections, Hantavirus|Hantavirus disease or disorder|disease due to hantavirus|disease caused by hantavirus|Hantavirus infection|Hantavirus infectious disease|Hantavirus caused disease or disorder NCIT:C3899|EFO:0007295|MESH:D018778|UMLS:C0242994|SCTID:359761005|ICD9:079.81 MONDO:0042492 owl:Class UBERON:0008876 biolink:NamedThing hypodermis skeletal muscle layer Any skeletal muscle organ in the hypodermis / superficial fascia tmpak2llvmy_mondo_relaxed.owl superficial fascia muscular layer|hypodermal muscle layer|panniculus carnosus|hypodermis muscle layer owl:Class UBERON:0004253 biolink:NamedThing skin muscle Any muscle organ that is part of a skin of body [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle organ of skin|muscle of integumental system|integumental system muscle|skin muscle organ owl:Class GO:1903295 biolink:NamedThing negative regulation of glutamate secretion, neurotransmission Any process that stops, prevents or reduces the frequency, rate or extent of glutamate secretion, neurotransmission. tmpak2llvmy_mondo_relaxed.owl inhibition of glutamate secretion, neurotransmission|down regulation of glutamate secretion, neurotransmission|down-regulation of glutamate secretion, neurotransmission|downregulation of glutamate secretion, neurotransmission owl:Class HP:0001977 biolink:NamedThing Abnormal thrombosis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). tmpak2llvmy_mondo_relaxed.owl Abnormal blood clot|Abnormal blood clotting UMLS:C4025731 human_phenotype owl:Class HP:0001871 biolink:NamedThing Abnormality of blood and blood-forming tissues An abnormality of the hematopoietic system. tmpak2llvmy_mondo_relaxed.owl Abnormality of the hematopoietic system|Haematological abnormality|Abnormality of the haematopoietic system|Abnormality of blood and blood-forming tissues|Hematologic disease|Hematological abnormality UMLS:C0850715|MSH:D006402|UMLS:C0018939|SNOMEDCT_US:191124002|UMLS:C4020864|SNOMEDCT_US:34093004 The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. HP:0003135 human_phenotype owl:Class MONDO:0006505 biolink:NamedThing basal ganglia cerebrovascular disease A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis). tmpak2llvmy_mondo_relaxed.owl cerebrovascular disorder of collection of basal ganglia|collection of basal ganglia cerebrovascular disorder MESH:D020144|DOID:10991|UMLS:C0751739|EFO:1000640 owl:Class MONDO:0011057 biolink:NamedThing cerebrovascular disorder A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. tmpak2llvmy_mondo_relaxed.owl CVA|CVA (cerebral vascular accident)|cerebrovascular disease|cerebral infarction|cerebrovascular disorder|stroke|cerebrovascular accident UMLS:C0007820|ICD10:I60.I69|SCTID:62914000|DOID:6713|MESH:D002561|ICD10:I63.9|ICD9:434.91|ICD9:437.8|ICD9:437.9|NCIT:C2938|ICD10:I60-I69|ICD9:430-438.99|ICD10:I67.9|EFO:0003763 owl:Class GO:0048844 biolink:NamedThing artery morphogenesis The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. tmpak2llvmy_mondo_relaxed.owl arterial morphogenesis|arteriogenesis owl:Class GO:0048514 biolink:NamedThing blood vessel morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905215 biolink:NamedThing negative regulation of RNA binding Any process that stops, prevents or reduces the frequency, rate or extent of RNA binding. tmpak2llvmy_mondo_relaxed.owl inhibition of RNA binding|downregulation of RNA binding|down-regulation of RNA binding|down regulation of RNA binding owl:Class GO:0051100 biolink:NamedThing negative regulation of binding Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpak2llvmy_mondo_relaxed.owl downregulation of binding|down-regulation of binding|inhibition of binding|down regulation of binding owl:Class MONDO:0006150 biolink:NamedThing colon Burkitt lymphoma A rare Burkitt lymphoma that arises from the colon. tmpak2llvmy_mondo_relaxed.owl colon Burkitt lymphoma|colon Burkitts lymphoma|primary colon Burkitt's lymphoma|Burkitts lymphoma of colon|Burkitt lymphoma of colon|colon Burkitt's lymphoma UMLS:C1333083|EFO:1000182|NCIT:C27465 owl:Class MONDO:0023113 biolink:NamedThing familial colorectal cancer Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories. tmpak2llvmy_mondo_relaxed.owl hereditary colorectal cancer|colorectal cancer, familial UMLS:CN029768|GARD:0008533 https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer owl:Class MONDO:0019498 biolink:NamedThing tungiasis An disease or disorder caused by infection with Tunga penetrans. tmpak2llvmy_mondo_relaxed.owl T penetrans|Tunga penetrans caused disease or disorder|Tunga penetrans|chigger flea|Tunga penetrans infectious disease|S penetrans|Tunga penetrans disease or disorder|Sarcopsylla penetrans DOID:0050266|EFO:1001445|GARD:0000393|MESH:D058285|ICD9:134.1|ICD10:B88.1|SCTID:64612002|UMLS:C0277356|Orphanet:879 https://rarediseases.info.nih.gov/diseases/393/tungiasis owl:Class MONDO:0002875 biolink:NamedThing parasitic ectoparasitic infectious disease Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods. tmpak2llvmy_mondo_relaxed.owl ectoparasitic infestation|infestation, ectoparasitic|Infestations, ectoparasitic|ectoparasitism MESH:D004478|UMLS:C0013578|DOID:4110 owl:Class MONDO:0013325 biolink:NamedThing COG5-CDG COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. tmpak2llvmy_mondo_relaxed.owl CDG syndrome type 3|CDG III|CDG syndrome type III|COG5-CDG (CDG-III)|carbohydrate deficient glycoprotein syndrome type III|congenital disorder of glycosylation type III|congenital disorder of glycosylation type 2i|congenital disorder of glycosylation, type III|CDG2I|CDG-III GARD:0012348|DOID:0070261|ICD10:E77.8|OMIM:613612|Orphanet:263487|UMLS:C3150876|SCTID:721100009|GARD:0001173 https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3 owl:Class MONDO:0015919 biolink:NamedThing syndromic neurometabolic disease with non-X-linked intellectual disability tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN200517|Orphanet:182073 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurometabolic disease' MONDO_0019058 owl:Class GO:0071305 biolink:NamedThing cellular response to vitamin D Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. tmpak2llvmy_mondo_relaxed.owl cellular response to calciferol|cellular response to cholecalciferol|cellular response to ergocalciferol owl:Class GO:1901701 biolink:NamedThing cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. tmpak2llvmy_mondo_relaxed.owl cellular response to oxygen molecular entity owl:Class MONDO:0014405 biolink:NamedThing STING-associated vasculopathy with onset in infancy STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. tmpak2llvmy_mondo_relaxed.owl SAVI|STING-associated vasculopathy, infantile-onset Orphanet:425120|UMLS:C4040879|ICD10:M35.8|UMLS:C4014722|SCTID:711164003|DOID:0111457|OMIM:615934|GARD:0012357|ICD9:279.8 https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy owl:Class GO:0043244 biolink:NamedThing regulation of protein-containing complex disassembly Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpak2llvmy_mondo_relaxed.owl regulation of protein complex disassembly owl:Class GO:0007586 biolink:NamedThing digestion The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032501 biolink:NamedThing multicellular organismal process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. tmpak2llvmy_mondo_relaxed.owl organismal physiological process|single-multicellular organism process owl:Class MONDO:0007724 biolink:NamedThing hirsutism-skeletal dysplasia-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl hirsutism skeletal dysplasia intellectual disability syndrome|hirsutism, skeletal dysplasia, and mental retardation|Wiedemann Oldigs Oppermann syndrome|hirsutism skeletal dysplasia mental retardation syndrome|hirsutism, skeletal dysplasia, and intellectual disability|Wiedemann-Oldigs-Oppermann syndrome UMLS:C0795976|Orphanet:2156|OMIM:142625|ICD10:Q87.8|GARD:0005566|MESH:C536705 owl:Class MONDO:0016263 biolink:NamedThing primitive neuroectodermal tumor of the corpus uteri A primitive neuroectodermal tumor that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl malignant peripheral neuroectodermal tumor of the corpus uteri|peripheral neuroectodermal cancer of the corpus uteri|primitive neuroectodermal tumor of body of uterus|body of uterus primitive neuroectodermal tumor ICD10:C54.1|ICD10:C54.3|ICD10:C54.8|Orphanet:213630|ICD10:C54.2|ICD10:C54.0|UMLS:CN201052 owl:Class MONDO:0013540 biolink:NamedThing deafness-lymphedema-leukemia syndrome Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. tmpak2llvmy_mondo_relaxed.owl deafness-lymphedema-leukemia syndrome|Emberger syndrome|lymphedema, primary, with myelodysplasia Orphanet:3226|GARD:0013030|ICD10:D46.7|SCTID:700057001|ICD9:757.0|OMIM:614038|UMLS:C3279664 https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome owl:Class MONDO:0043218 biolink:NamedThing neurovascular disease A disorder of the nervous system related to a vascular etiology. tmpak2llvmy_mondo_relaxed.owl vasculature nervous system disorder|disease of nervous system vasculature|nervous system disorder of vasculature|neurovascular disorder UMLS:C3898144|NCIT:C117007 owl:Class MONDO:0009155 biolink:NamedThing EEM syndrome EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). tmpak2llvmy_mondo_relaxed.owl EEM syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome|EEMS|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy MESH:C536190|Orphanet:1897|DOID:0111649|OMIM:225280|ICD10:Q87.8|SCTID:720856002|GARD:0002078 https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome owl:Class HGNC:7103 biolink:NamedThing MIP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010680 biolink:NamedThing X-linked Emery-Dreifuss muscular dystrophy X-linked form of Emery-Dreifuss muscular dystrophy. tmpak2llvmy_mondo_relaxed.owl EMERY-Dreifuss muscular dystrophy 1, X-linked|scapuloperoneal syndrome, X-linked|X-linked Emery-Dreifuss muscular dystrophy|Emerinopathy|scapuloperoneal syndrome, X-linked, formerly|EMD1|humeroperoneal neuromuscular disease|Emery-Dreifuss muscular dystrophy 1, X-linked|muscular dystrophy, tardive, Dreifuss-Emery type, with contractures|Humeroperoneal neuromuscular disease, formerly|Humeroperoneal neuromuscular disease|EDMD1|muscular dystrophy, tardive Emery-Dreifuss type, with contractures|Emery-Dreifuss muscular dystrophy, X-linked DOID:0070246|UMLS:C0751337|NCIT:C168730|ICD10:G71.0|UMLS:CN069573|Orphanet:98863|OMIM:310300|GARD:0002102 owl:Class MONDO:0021106 biolink:NamedThing laminopathy A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. tmpak2llvmy_mondo_relaxed.owl Orphanet:98301|UMLS:CN236383 owl:Class MONDO:0060496 biolink:NamedThing neurodevelopmental disorder with hypotonia, neuropathy, and deafness tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with hypotonia, neuropathy, and deafness|NEDHND|myopathy, Congenital, with neuropathy and Deafness OMIM:617519|UMLS:C4479603 owl:Class MONDO:0700092 biolink:NamedThing neurodevelopmental disorder A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions. tmpak2llvmy_mondo_relaxed.owl MedDRA:C1535926|NCIT:C1535926|MESH:D065886|UMLS:C1535926|SCTID:700364009 http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3410 owl:Class MONDO:0005792 biolink:NamedThing herpes simplex virus gingivostomatitis Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents. tmpak2llvmy_mondo_relaxed.owl Gingivostomatitis, herpetic|herpetic Gingivostomatitides|herpetic stomatitis|Simplexvirus caused stomatitis|Simplexvirus stomatitis|Herpes simplex, oral|simplex, oral Herpes|Stomatitides, herpetic|herpetic Stomatitides|herpetic Gingivostomatitis|Gingivostomatitides, herpetic|oral Herpes simplex MESH:D013283|EFO:0007307|SCTID:57920007 owl:Class MONDO:0004842 biolink:NamedThing stomatitis Inflammation of the oral mucosa due to local or systemic factors. tmpak2llvmy_mondo_relaxed.owl mouth mucosa inflammation|inflammation of mouth mucosa|mucositis oral|oral mucositis MESH:D013280|SCTID:61170000|ICD10:K12.1|ICD9:528.00|EFO:1001904|ICD9:528.0|UMLS:C0038362|UMLS:C1568868|NCIT:C26887|DOID:9637 owl:Class NCBITaxon:77643 biolink:NamedThing Mycobacterium tuberculosis complex tmpak2llvmy_mondo_relaxed.owl Mycobacterium complex PMID:29205127|PMID:15243089|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1763 biolink:NamedThing Mycobacterium tmpak2llvmy_mondo_relaxed.owl PMID:29497402|PMID:1380284|GC_ID:11|PMID:7547304|PMID:1883713|PMID:1581193|PMID:31296783|PMID:8863452|PMID:2275850|PMID:7907223|PMID:7547284|PMID:16014496 ncbi_taxonomy owl:Class UBERON:5002544 biolink:NamedThing digit plus metapodial segment A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl digit ray|digit ( phalanges plus metapodial) plus soft tissue|digit digitopodial subdivision|digit owl:Class MONDO:0003196 biolink:NamedThing appendix carcinoma A carcinoma that arises from epithelial cells of the vermiform appendix tmpak2llvmy_mondo_relaxed.owl Ca appendix|appendix cancer|appendix carcinoma|carcinoma of the appendix|carcinoma of appendix|vermiform appendix carcinoma|carcinoma of vermiform appendix UMLS:C0728951|NCIT:C9330|SCTID:448992002|DOID:4902 owl:Class MONDO:0006029 biolink:NamedThing cecum carcinoma A carcinoma that arises from epithelial cells of the caecum tmpak2llvmy_mondo_relaxed.owl cecal cancer|carcinoma of the cecum|carcinoma of cecum|cecum cancer|carcinoma of caecum|caecum carcinoma|cecum carcinoma UMLS:C0149640|DOID:1519|SCTID:255081007|NCIT:C3491|EFO:1000021 owl:Class MONDO:0002000 biolink:NamedThing anaerobic meningitis tmpak2llvmy_mondo_relaxed.owl meningitis caused by anaerobic bacteria|meningitis due to anaerobic bacteria ICD9:320.81|SCTID:445059005|DOID:14559|UMLS:C0854214 owl:Class MONDO:0024389 biolink:NamedThing anaerobic bacteria infectious disease tmpak2llvmy_mondo_relaxed.owl anaerobic bacterial infection|infection caused by anaerobic bacteria|infection due to anaerobic bacteria UMLS:C0854328|SCTID:423451008|ICD9:041.84 Editor note: DP owl:Class MONDO:0001991 biolink:NamedThing malignant cardiac germ cell tumor A rare malignant germ cell tumor that arises from the pericardium. tmpak2llvmy_mondo_relaxed.owl malignant germ cell tumor of the heart|malignant germ cell tumor of heart|malignant Cardiac germ cell neoplasm|malignant germ cell neoplasm of the heart|malignant heart germ cell neoplasm|malignant germ cell neoplasm of heart|malignant Cardiac germ cell tumor|malignant heart germ cell tumor NCIT:C5371|DOID:14535|UMLS:C1334566 owl:Class MONDO:0003113 biolink:NamedThing extragonadal germ cell cancer A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpak2llvmy_mondo_relaxed.owl extragonadal germ cell tumor, malignant|tumor of extragonadal germ cell|malignant tumor of extragonadal germ cell|malignant tumor of the extragonadal germ cell|malignant neoplasm of extragonadal germ cell|malignant neoplasm of the extragonadal germ cell|malignant extragonadal germ cell tumor|extragonadal germ cell malignant tumor UMLS:C1334581|NCIT:C8881|DOID:4717 owl:Class UBERON:0005015 biolink:NamedThing mucosa of prostatic urethra A mucosa that is part of a prostatic urethra [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl prostatic part of urethra mucosa of organ|prostatic urethral mucosa|prostatic urethra organ mucosa|organ mucosa of prostatic part of urethra|mucosa of prostatic part of urethra|prostatic part of urethra mucous membrane|prostatic part of urethra mucosa|mucosa of organ of prostatic part of urethra|mucous membrane of prostatic part of urethra|prostatic urethra mucosa of organ|prostatic urethra mucous membrane|prostatic urethra mucosa|mucous membrane of prostatic urethra|prostatic part of urethra organ mucosa|organ mucosa of prostatic urethra|mucosa of organ of prostatic urethra|tunica mucosa urethrae prosticae owl:Class GO:0042430 biolink:NamedThing indole-containing compound metabolic process The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton. tmpak2llvmy_mondo_relaxed.owl ketole metabolic process|indole and derivative metabolism|indole derivative metabolic process|indole and derivative metabolic process|ketole metabolism|indole derivative metabolism|indole-containing compound metabolism owl:Class GO:0046483 biolink:NamedThing heterocycle metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpak2llvmy_mondo_relaxed.owl heterocycle metabolism owl:Class MONDO:0021043 biolink:NamedThing mixed neoplasm A neoplasm composed of at least two distinct cellular populations. tmpak2llvmy_mondo_relaxed.owl mixed neoplasm|mixed tumor ICDO:8940/1|MESH:D018193|NCIT:C6930 owl:Class UBERON:0004874 biolink:NamedThing somatopleure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011450 biolink:NamedThing Unusual CNS infection A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. tmpak2llvmy_mondo_relaxed.owl Central nervous system infection MSH:D002494|SNOMEDCT_US:128117002|UMLS:C0007684 peter 2012-03-18T05:57:29Z human_phenotype owl:Class HP:0002011 biolink:NamedThing Morphological central nervous system abnormality A structural abnormality of the central nervous system. tmpak2llvmy_mondo_relaxed.owl Morphological abnormality of the central nervous system|Central nervous system disease|Morphological abnormality of the CNS|Abnormality of the central nervous system UMLS:C4021765|SNOMEDCT_US:23853001|MSH:D002493|UMLS:C0007682 HP:0007319|HP:0002481|HP:0002405|HP:0002413 human_phenotype owl:Class MONDO:0010819 biolink:NamedThing Stargardt disease 3 tmpak2llvmy_mondo_relaxed.owl Stargardt disease type 3|STGD3|macular dystrophy with flecks, type 3|Stargardt-like macular dystrophy, autosomal dominant|Stargardt disease 3 OMIM:600110|UMLS:C1838644|MESH:C535805 owl:Class MONDO:0019353 biolink:NamedThing Stargardt disease Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. tmpak2llvmy_mondo_relaxed.owl juvenile onset macular degeneration|Stargardt 1|Stargardt macular dystrophy|fundus flavimaculatus|Stargardt disease 1 NCIT:C85078|SCTID:47673003|Orphanet:827|UMLS:C1855465|UMLS:C0271093|ICD10:H35.5|DOID:0050817|MedDRA:10062766|GARD:0000181 https://rarediseases.info.nih.gov/diseases/181/stargardt-disease owl:Class MONDO:0002469 biolink:NamedThing lacrimal gland carcinoma ex pleomorphic adenoma A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl mixed lacrimal gland cancer|lacrimal gland malignant mixed tumor|carcinoma Ex pleomorphic adenoma of the lacrimal gland|malignant mixed neoplasm of lacrimal gland|lacrimal gland malignant mixed neoplasm|malignant mixed tumor of lacrimal gland|carcinoma ex pleomorphic adenoma of lacrimal gland|malignant mixed neoplasm of the lacrimal gland|lacrimal gland carcinoma ex pleomorphic adenoma|malignant mixed tumor of the lacrimal gland|carcinoma ex pleomorphic adenoma of the lacrimal gland SCTID:254989000|UMLS:C0346342|NCIT:C6804|DOID:296 MONDO:0021278 owl:Class MONDO:0002463 biolink:NamedThing lacrimal gland carcinoma A carcinoma that arises from epithelial cells of the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl carcinoma of lacrimal gland|carcinoma of the lacrimal gland|lacrimal gland carcinoma DOID:293|NCIT:C6129|UMLS:C1334358 owl:Class CHEBI:33232 biolink:NamedThing application Intended use of the molecular entity or part thereof by humans. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:50906 biolink:NamedThing role A role is particular behaviour which a material entity may exhibit. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005664 biolink:NamedThing bartonellosis An infectious disease produced by bacteria of the genus Bartonella. tmpak2llvmy_mondo_relaxed.owl bartonelliasis|Bartonella disease or disorder|Bartonella caused disease or disorder|Rochalimaea infection|Bartonella infectious disease|Rochalimaea infections|Rochalimaea infection (disorder)|Bartonella infection NCIT:C84586|ICD10:A44.9|EFO:0007166|DOID:11102|ICD10:A44|UMLS:C0004771|SCTID:266123003|MESH:D001474|ICD9:088.0 owl:Class MONDO:0006924 biolink:NamedThing Bartonellaceae infectious disease Infections with bacteria of the family bartonellaceae. tmpak2llvmy_mondo_relaxed.owl Bartonellaceae disease or disorder|infections, Bartonellaceae|Bartonellaceae infection|Bartonellaceae caused disease or disorder|infection, Bartonellaceae MESH:D001476|EFO:1001125|UMLS:C0004773 owl:Class MONDO:0011922 biolink:NamedThing nonimmune chronic idiopathic neutropenia of adults tmpak2llvmy_mondo_relaxed.owl nonimmune chronic idiopathic neutropenia of adults|NI-CINA|neutropenia, nonimmune chronic idiopathic, of adults|adult idiopathic neutropenia OMIM:607847|MESH:C564320|ICD10:D70|UMLS:C1842930|Orphanet:2688 owl:Class UBERON:0010586 biolink:NamedThing manual digit phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit mesenchyme. tmpak2llvmy_mondo_relaxed.owl fore limb digit phalanx pre-cartilage condensation|manus phalanx pre-cartilage condensation|forelimb phalanx pre-cartilage condensation|hand digit phalanx pre-cartilage condensation|hand phalanx pre-cartilage condensation owl:Class UBERON:0015024 biolink:NamedThing manual digit phalanx endochondral element A manual digit phalanx bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl manual digit phalanx element|manual digit phalanx skeletal element owl:Class UBERON:0003075 biolink:NamedThing neural plate A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA] tmpak2llvmy_mondo_relaxed.owl presumptive central nervous system|lamina neuralis owl:Class GO:0042158 biolink:NamedThing lipoprotein biosynthetic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. tmpak2llvmy_mondo_relaxed.owl lipoprotein anabolism|lipoprotein formation|lipoprotein synthesis|lipoprotein biosynthesis owl:Class GO:1901566 biolink:NamedThing organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. tmpak2llvmy_mondo_relaxed.owl organonitrogen compound formation|organonitrogen compound biosynthesis|organonitrogen compound synthesis|organonitrogen compound anabolism owl:Class MONDO:0054833 biolink:NamedThing charcot-marie-tooth disease, axonal, type 2DD tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-tooth disease, axonal, type 2DD|Charcot-Marie-Tooth neuropathy, type 2Dd|CMT2DD OMIM:618036|DOID:0111558|Orphanet:521414|UMLS:CN248781 owl:Class GO:0022601 biolink:NamedThing menstrual cycle phase The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0044848 biolink:NamedThing biological phase A distinct period or stage in a biological process or cycle. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0072201 biolink:NamedThing negative regulation of mesenchymal cell proliferation Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010464 biolink:NamedThing regulation of mesenchymal cell proliferation Any process that modulates the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001073 biolink:NamedThing idiopathic progressive polyneuropathy tmpak2llvmy_mondo_relaxed.owl DOID:10593|UMLS:C0154756|SCTID:33209009|ICD9:356.4 owl:Class MONDO:0006094 biolink:NamedThing Askin tumor A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma. tmpak2llvmy_mondo_relaxed.owl Askin's tumor|PNET of thoracopulmonary region|small cell tumor of thoracopulmonary region|peripheral neuroectodermal tumor of thoracopulmonary region|Askin tumor EFO:1000095|DOID:0050608|ICDO:9365/3|UMLS:C0877849|NCIT:C7542 Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling owl:Class MONDO:0018271 biolink:NamedThing peripheral primitive neuroectodermal tumor A small round cell tumor with neural differentiation arising from the soft tissues or bone. tmpak2llvmy_mondo_relaxed.owl peripheral PNET|pPNET|peripheral primitive neuroectodermal tumor|PPNET|peripheral neuroectodermal tumor|peripheral primitive neuroectodermal neoplasm|peripheral neuroepithelioma|peripheral neuroectodermal neoplasm 2022-02-01 UMLS:C3489398|ICD10:C71.9|Orphanet:370348|ICDO:9364/3|NCIT:C9341|UMLS:C0684337 This will be obsoleted in the 2022-02-01 release. The term will be split and the new ID for this term will be MONDO:800020. https://github.com/monarch-initiative/mondo/issues/4039 owl:Class HsapDv:0000121 biolink:NamedThing 27-year-old human stage Adult stage that refers to an adult who is over 27 and under 28. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003276 biolink:NamedThing middle ear disease A disease involving the middle ear. tmpak2llvmy_mondo_relaxed.owl middle ear disease|disorder of middle ear|middle ear disease or disorder|disease or disorder of middle ear|middle Ear disorder|disease of middle ear SCTID:68996008|UMLS:C0271428|NCIT:C27065|DOID:5100 owl:Class MONDO:0021205 biolink:NamedThing disease of ear A disease that involves the ear. tmpak2llvmy_mondo_relaxed.owl ear disease|Ear disorder|Ear disease|disorder of ear|disease or disorder of ear|ear disease or disorder|disease of ear SCTID:25906001|ICD9:388.9|UMLS:C0013447|NCIT:C26757|ICD9:388.8 owl:Class MONDO:0032852 biolink:NamedThing myopathy, congenital, with structured cores and z-line abnormalities tmpak2llvmy_mondo_relaxed.owl MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES|MYOCOZ|Multiple Structured Core Disease OMIM:618654 owl:Class MONDO:0024540 biolink:NamedThing Jervell and Lange-Nielsen syndrome 1 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. tmpak2llvmy_mondo_relaxed.owl deafness, congenital, and functional heart disease|Surdo-Cardiac syndrome|Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1|JLNS1|Cardioauditory syndrome of Jervell and Lange-Nielsen|Jervell and Lange-Nielsen syndrome 1|prolonged QT interval in Ekg and sudden death|KCNQ1 Jervell and Lange-Nielsen syndrome OMIM:220400|UMLS:CN034131 owl:Class MONDO:0002441 biolink:NamedThing Jervell and Lange-Nielsen syndrome An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. tmpak2llvmy_mondo_relaxed.owl Jervell and Lange Nielsen syndrome|prolonged QT interval in EKG and sudden death|Jervell-Lange Nielsen syndrome|deafness, congenital, and functional heart disease|Jervell and Lange-Nielsen syndrome type 1|Jervell Lange-Nielsen syndrome|Surdo-cardiac syndrome|long QT interval-deafness syndrome|Jervell and Lange-Nielsen syndrome 1|JLNS1|Cardioauditory syndrome of Jervell and Lange-Nielsen|Jervell and Lange-Nielson syndrome SCTID:373905003|Orphanet:90647|MESH:D029593|UMLS:C0022387|NCIT:C84793|MedDRA:10057936|ICD10:I45.8|DOID:2842|GARD:0003048|OMIMPS:220400 https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome owl:Class UBERON:0001770 biolink:NamedThing lacrimal canaliculus The part of the lacrimal duct that connects the lacrimal punctum to the lacrimal sac. tmpak2llvmy_mondo_relaxed.owl canaliculus lacrimalis owl:Class GO:0032782 biolink:NamedThing bile acid secretion The regulated release of bile acid, composed of any of a group of steroid carboxylic acids occurring in bile, by a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046717 biolink:NamedThing acid secretion The controlled release of acid by a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050728 biolink:NamedThing negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. tmpak2llvmy_mondo_relaxed.owl downregulation of inflammatory response|down regulation of inflammatory response|down-regulation of inflammatory response|anti-inflammatory response|inhibition of inflammatory response owl:Class GO:0032102 biolink:NamedThing negative regulation of response to external stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl inhibition of response to external stimulus|down-regulation of response to external stimulus|down regulation of response to external stimulus|downregulation of response to external stimulus owl:Class GO:0035176 biolink:NamedThing social behavior Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group. tmpak2llvmy_mondo_relaxed.owl cooperative behavior|social behaviour owl:Class MONDO:0021086 biolink:NamedThing gingival neoplasm A benign or malignant neoplasm that affects the upper or lower gingiva. tmpak2llvmy_mondo_relaxed.owl neoplasm of the gingiva|gingiva neoplasm|tumor of the gingiva|gingival neoplasm|tumor of gingiva|gingival tumor|gum neoplasm|gum tumor|gingiva tumor|neoplasm of gingiva|tumor of the gum|tumor of gum|neoplasm of gum|neoplasm of the gum|gingiva neoplasm (disease) SCTID:126792007|UMLS:C0017570|NCIT:C3057 owl:Class MONDO:0021192 biolink:NamedThing odontogenic neoplasm A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain. tmpak2llvmy_mondo_relaxed.owl neoplasm of calcareous tooth|calcareous tooth neoplasm (disease)|calcareous tooth neoplasm|calcareous tooth tumor|tumor of calcareous tooth|odontogenic tumor|odontogenic neoplasm UMLS:C0028880|MESH:D009808|ICDO:9270/1|NCIT:C3286 owl:Class MONDO:0007434 biolink:NamedThing primary failure of tooth eruption tmpak2llvmy_mondo_relaxed.owl primary failure of eruption, nonsyndromic|unerupted second primary molar|dental noneruption|PFE|failure of tooth eruption, primary|posterior Openbite malocclusion, familial|primary retention of teeth DOID:0111341|MESH:C565114|UMLS:C1852222|OMIM:125350|Orphanet:412206|ICD10:K00.8 owl:Class MONDO:0011801 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1|autosomal recessive spinocerebellar ataxia with axonal neuropathy|SCAN1|spinocerebellar ataxia type 1 with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy type 1|spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy|spinocerebellar ataxia autosomal recessive with axonal neuropathy GARD:0010000|ICD10:G60.2|DOID:0090115|MESH:C537313|SCTID:765091006|GARD:10000|Orphanet:94124|UMLS:C1846574|OMIM:607250 owl:Class MONDO:0020127 biolink:NamedThing genetic peripheral neuropathy Genetic peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl genetic peripheral neuropathy Orphanet:98497 owl:Class CHEBI:32760 biolink:NamedThing L-tyrosinate(1-) An optically active form of tyrosinate having L-configuration. tmpak2llvmy_mondo_relaxed.owl L-tyrosine anion|L-tyrosine monoanion|L-tyrosinate(1-)|(2S)-2-amino-3-(4-hydroxyphenyl)propanoate|hydrogen L-tyrosinate owl:Class CHEBI:59814 biolink:NamedThing L-alpha-amino acid anion Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group. tmpak2llvmy_mondo_relaxed.owl L-alpha-amino carboxylate owl:Class MONDO:0001538 biolink:NamedThing retinal ischemia A ischemic disease that involves the retina. tmpak2llvmy_mondo_relaxed.owl retina ischemic disease|ischemic disease of retina ICD10:H35.82|DOID:12510|SCTID:26468004|UMLS:C0162291|ICD9:362.84 owl:Class MONDO:0005283 biolink:NamedThing retinal disease Any disease or disorder of the retina. tmpak2llvmy_mondo_relaxed.owl retina eye disease|eye disease of retina|retinopathy SCTID:29555009|EFO:0003839|UMLS:C0035309|MESH:D012164|HGNC:8002|ICD9:362.9|ICD10:H35.9|DOID:5679|ICD9:362.89|NCIT:C62601 owl:Class UBERON:0001463 biolink:NamedThing manual digit 1 1st (preaxial) digit of the manus[Wikipedia]. tmpak2llvmy_mondo_relaxed.owl hand digit 1|digit 1 of manus|digitus 1|digitus primus|fore digit I|manual digit 1|forelimb dewclaw|digitus primus [I]|thumb|finger 1|manual digit I|pollex|alula|digit 1 of fore-paw|fore limb digit 1|first digit of hand|digitus I|first finger owl:Class UBERON:0019231 biolink:NamedThing manual digit 1 or 5 tmpak2llvmy_mondo_relaxed.owl lateral manual digit|outer manual digit|outermost manual digit|lateral finger owl:Class MONDO:0021764 biolink:NamedThing acrofacial dysostosis preis type Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl GARD:0000495 https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type owl:Class MONDO:0018237 biolink:NamedThing acrofacial dysostosis tmpak2llvmy_mondo_relaxed.owl Orphanet:364574|DOID:0060379|UMLS:C1332140|NCIT:C35795 owl:Class HP:0010927 biolink:NamedThing Abnormal blood inorganic cation concentration An abnormality of divalent inorganic cation homeostasis. tmpak2llvmy_mondo_relaxed.owl Abnormality of divalent inorganic cation homeostasis UMLS:C4023648 peter 2011-01-06T07:47:18Z human_phenotype owl:Class HP:0010929 biolink:NamedThing Abnormal blood cation concentration An abnormality of cation homeostasis. tmpak2llvmy_mondo_relaxed.owl Abnormality of cation homeostasis UMLS:C4023646 peter 2011-01-06T10:36:04Z human_phenotype owl:Class GO:0043066 biolink:NamedThing negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. tmpak2llvmy_mondo_relaxed.owl down-regulation of apoptosis|downregulation of apoptosis|pro-survival|negative regulation of apoptosis|apoptosis inhibitor activity|anti-apoptosis|inhibition of apoptosis|down regulation of apoptosis owl:Class GO:0042981 biolink:NamedThing regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process. tmpak2llvmy_mondo_relaxed.owl apoptosis regulator activity|regulation of apoptosis owl:Class CL:0000083 biolink:NamedThing epithelial cell of pancreas An epithelial cell of the pancreas. tmpak2llvmy_mondo_relaxed.owl pancreas epithelial cell|pancreatic epithelial cell BTO:0000028 cell owl:Class MONDO:0011300 biolink:NamedThing myopia 3, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MYP3|myopia 3, autosomal dominant MESH:C566397|UMLS:C1864111|OMIM:603221 owl:Class MONDO:0001384 biolink:NamedThing myopia The condition in which the individual does not see far distances clearly. tmpak2llvmy_mondo_relaxed.owl myopia (disease)|near-sightedness|short-sightedness|near vision|myopia myopia (disease) EFO:0003927|MESH:D009216|SCTID:57190000|OMIMPS:160700|ICD9:367.1|UMLS:C0027092|HP:0000545|DOID:11830|ICD10:H52.1 owl:Class HP:0002717 biolink:NamedThing Adrenal overactivity tmpak2llvmy_mondo_relaxed.owl UMLS:C4025685 Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. peter 2008-02-25T10:41:00Z human_phenotype owl:Class HP:0011733 biolink:NamedThing Abnormality of adrenal physiology A functional abnormality of the adrenal glands. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023212 peter 2012-04-21T08:05:42Z HP:0002855 human_phenotype owl:Class UBERON:0022287 biolink:NamedThing tear film An aqueous substance that covers the anterior surface of the eyeball, keeping the cornea wet. tmpak2llvmy_mondo_relaxed.owl precorneal film owl:Class UBERON:0006314 biolink:NamedThing bodily fluid Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. tmpak2llvmy_mondo_relaxed.owl fluid|body fluid owl:Class MONDO:0013051 biolink:NamedThing autosomal recessive cutis laxa type 2B Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. tmpak2llvmy_mondo_relaxed.owl PYCR1 autosomal recessive cutis laxa type 2|cutis laxa, autosomal recessive type 2B|cutis laxa, autosomal recessive, type 2B|autosomal recessive cutis laxa type IIB|cutis laxa with progeroid features|ARCL2B|autosomal recessive cutis laxa type 2B|autosomal recessive cutis laxa type 2, progeroid type|ARCL2, progeroid type|autosomal recessive cutis laxa type 2 caused by mutation in PYCR1|cutis laxa, autosomal recessive, type IIB MESH:C567855|GARD:0001641|ICD10:Q82.8|UMLS:C2751987|ICD10CM:Q82.8|Orphanet:357064|DOID:0070137|OMIM:612940 https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b owl:Class MONDO:0019573 biolink:NamedThing autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). tmpak2llvmy_mondo_relaxed.owl ARCL2|cutis laxa with joint laxity and developmental delay ICD10:Q82.8|Orphanet:90350 owl:Class UBERON:0013697 biolink:NamedThing exocrine pancreas epithelium Epithelium lining the exocrine pancreas. tmpak2llvmy_mondo_relaxed.owl epithelium of exocrine pancreas|exocrine pancreas epithelial cell owl:Class MONDO:0002359 biolink:NamedThing periosteal chondroma A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. tmpak2llvmy_mondo_relaxed.owl juxtacortical chondroma|juxtacortical chondroma (morphologic abnormality)|periosteal chondroma NCIT:C4302|ICDO:9221/0|DOID:2601|UMLS:C0334548 owl:Class MONDO:0002360 biolink:NamedThing chondroma A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes. tmpak2llvmy_mondo_relaxed.owl chondroma|central chondroma|chondroma, benign ICDO:9220/0|DOID:2602|MESH:D002812|NCIT:C53459|UMLS:C0936248|GARD:0006052 https://rarediseases.info.nih.gov/diseases/6052/chondroma owl:Class MONDO:0018571 biolink:NamedThing contractures-developmental delay-Pierre Robin syndrome tmpak2llvmy_mondo_relaxed.owl 5q23 microdeletion syndrome ICD10:Q87.0|Orphanet:436003|UMLS:CN237584 owl:Class MONDO:0018187 biolink:NamedThing genetic syndromic Pierre Robin syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN204685|Orphanet:363294 owl:Class CHEBI:26739 biolink:NamedThing sphingolipid Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone. tmpak2llvmy_mondo_relaxed.owl sphingolipids owl:Class CHEBI:18059 biolink:NamedThing lipid 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. tmpak2llvmy_mondo_relaxed.owl lipids|Lipid owl:Class MONDO:0005284 biolink:NamedThing chronic progressive multiple sclerosis A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) tmpak2llvmy_mondo_relaxed.owl MESH:D020528|EFO:0003840|UMLS:C0393665|SCTID:230373008 owl:Class MONDO:0005301 biolink:NamedThing multiple sclerosis A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. tmpak2llvmy_mondo_relaxed.owl insular sclerosis|generalized multiple sclerosis MESH:D009103|UMLS:C0026769|EFO:0003885|DOID:2377|ICD10:G35|NCIT:C3243|SCTID:24700007|ICD9:340 owl:Class UBERON:5003635 biolink:NamedThing pedal digit 5 plus metapodial segment A subdivision of the autopod consisting of pedal digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl pedal digit V plus metapodial segment|pedal digit 5|pedal digit 5 ray|pedal digit 5 ( phalanges plus metapodial) plus soft tissue|pedal digit 5 digitopodial subdivision owl:Class UBERON:5006052 biolink:NamedThing digit 5 plus metapodial segment A subdivision of the autopod consisting of digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl digit 5 ( phalanges plus metapodial) plus soft tissue|digit V plus metapodial segment|digit 5|digit 5 digitopodial subdivision|digit 5 ray owl:Class SO:0000655 biolink:NamedThing ncRNA An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product. tmpak2llvmy_mondo_relaxed.owl noncoding RNA|INSDC_qualifier:other|known_ncrna owl:Class SO:0000233 biolink:NamedThing mature_transcript A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified. tmpak2llvmy_mondo_relaxed.owl mature transcript owl:Class MONDO:0017269 biolink:NamedThing X-linked ichthyosis syndrome X-linked form of inherited ichthyosis syndromic form. tmpak2llvmy_mondo_relaxed.owl inherited ichthyosis syndromic form, X-linked|X-linked inherited ichthyosis syndromic form MedDRA:10048063|Orphanet:281210 Editor note: check relationship to syndromic recessive X-linked ichthyosis owl:Class MONDO:0001873 biolink:NamedThing geniculate ganglionitis Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. tmpak2llvmy_mondo_relaxed.owl geniculate ganglionitis|geniculate ganglion inflammation|inflammation of geniculate ganglion ICD10:G51.1|UMLS:C0017407|SCTID:72839009|DOID:14075|ICD9:351.1 owl:Class MONDO:0021260 biolink:NamedThing sensory ganglionopathy A disease or disorder that involves the sensory ganglion. tmpak2llvmy_mondo_relaxed.owl disease or disorder of sensory ganglion|disorder of sensory ganglion|sensory ganglion disease|disease of sensory ganglion|sensory ganglion disease or disorder owl:Class MONDO:0008097 biolink:NamedThing linear nevus sebaceus syndrome Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement). tmpak2llvmy_mondo_relaxed.owl epidermal nevus syndrome|Nevus sebaceus of Jadassohn|Epidermal Nevus syndrome, formerly|Nevus sebaceous of Jadassohn|linear nevus sebaceous syndrome|sebaceous nevus syndrome linear|Jadassohn Nevus phakomatosis|SFM syndrome|Nevus sebaceus syndrome|organoid nevus syndrome|organoid Nevus|Solomon syndrome|Schimmelpenning Feuerstein Mims syndrome|Sfm syndrome|organoid nevus phakomatosis|SFM|linear sebaceous Nevus syndrome|organoid Nevus phakomatosis|Schimmelpenning syndrome|sebaceous Nevus syndrome, linear|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome|JNP|linear sebaceous Nevus|Jadassohn nevus phakomatosis ICD10:Q85.8|OMIM:163200|NCIT:C4678|GARD:0010291|Orphanet:2612|DOID:0111530 https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome owl:Class MONDO:0015950 biolink:NamedThing inherited skin tumor tmpak2llvmy_mondo_relaxed.owl genetic skin tumor Orphanet:183487|UMLS:CN200547 owl:Class MONDO:0100362 biolink:NamedThing lip herpes simplex type 2 infectious disease Any herpes simplex type 2 infectious disease that involves the lip. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0100360 biolink:NamedThing herpes simplex type 2 infectious disease A disease caused by infection with herpes simplex type 2. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class CHEBI:30411 biolink:NamedThing cobalamin A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. tmpak2llvmy_mondo_relaxed.owl COBALAMIN|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide|cobalamin owl:Class CHEBI:23334 biolink:NamedThing cobalamins tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011402 biolink:NamedThing congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. tmpak2llvmy_mondo_relaxed.owl cataract, congenital, with Facial Dysmorphism and neuropathy|CCFDN|congenital cataracts-facial dysmorphism-neuropathy syndrome|congenital cataracts, facial dysmorphism, and neuropathy ICD9:759.89|MESH:C565822|ICD10:Q87.8|UMLS:C1858726|OMIM:604168|SCTID:702433001|Orphanet:48431 owl:Class MONDO:0020229 biolink:NamedThing cerebral disease with cataract tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN207057|Orphanet:98645 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: nervous system disorder' MONDO_0005071 owl:Class CHEBI:33543 biolink:NamedThing sulfonate The sulfur oxoanion formed by deprotonation of sulfonic acid. tmpak2llvmy_mondo_relaxed.owl [SHO3](-)|SHO3(-)|sulfonates|hydridotrioxidosulfate(1-) owl:Class CHEBI:33482 biolink:NamedThing sulfur oxoanion tmpak2llvmy_mondo_relaxed.owl sulfur oxoanions|sulfur oxoanion|oxoanions of sulfur owl:Class MONDO:0024350 biolink:NamedThing pityriasis steatoides tmpak2llvmy_mondo_relaxed.owl pityriasis steatoides SCTID:403426003|ICD9:696.5|UMLS:C1274781 owl:Class MONDO:0006547 biolink:NamedThing exanthem Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. tmpak2llvmy_mondo_relaxed.owl exanthem|exanthem (disease)|skin Rash|Rash|skin eruption|cutaneous eruption|exanthema exanthem (disease) NCIT:C39594|ICD9:782.1|Wikipedia:Exanthem|HP:0000988|EFO:1000697|DOID:0050486|MESH:D005076|ICD10:R21|SCTID:271807003 owl:Class MONDO:0003646 biolink:NamedThing rectum neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl rectal NET|neuroendocrine tumor of rectum|rectal neuroendocrine neoplasm|NET of the rectum|rectum neuroendocrine neoplasm|rectum neuroendocrine tumor|neuroendocrine neoplasm of the rectum|rectum NET|neuroendocrine neoplasm of rectum|rectum neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:100081|DOID:5777|UMLS:C1335686|NCIT:C5698 owl:Class MONDO:0002883 biolink:NamedThing intestinal neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl intestinal neuroendocrine benign tumor|neuroendocrine tumor of intestine|neuroendocrine neoplasm of the intestine|intestine neuroendocrine neoplasm|neuroendocrine neoplasm of intestine|intestine NET|intestinal neuroendocrine neoplasm|intestine neuroendocrine tumor|intestine neuroendocrine tumor, well differentiated, low or intermediate grade DOID:4119|UMLS:C1334231|NCIT:C5695 owl:Class HGNC:11185 biolink:NamedThing SORL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021533 biolink:NamedThing intestinal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl intestine neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of intestine|intestine carcinoid tumor|intestinal neuroendocrine tumor G1|intestinal NET G1|carcinoid tumor of the intestine|intestine carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of intestine|intestine NET G1|intestinal carcinoid tumor|intestine neuroendocrine neoplasm G1 SCTID:276816003|NCIT:C4637 owl:Class MONDO:0006420 biolink:NamedThing small intestinal mucosa-associated lymphoid tissue lymphoma A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine. tmpak2llvmy_mondo_relaxed.owl MALT lymphoma of the small intestine|MALT lymphoma of small intestine|small intestine mucosa-associated lymphoid tissue lymphoma|MALToma of the small bowel|small bowel MALToma|small intestine MALToma|MALT lymphoma of the small bowel|small intestine MALT lymphoma|MALToma of small intestine|small bowel MALT lymphoma|mucosa-associated lymphoid tissue lymphoma of small intestine|MALT lymphoma of small bowel|small bowel mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of the small intestine|small intestinal mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of the small bowel|MALToma of the small intestine|MALToma of small bowel|mucosa-associated lymphoid tissue lymphoma of small bowel UMLS:C1336004|NCIT:C5635|EFO:1000537 owl:Class MONDO:0017128 biolink:NamedThing inherited digestive tract tumor tmpak2llvmy_mondo_relaxed.owl genetic digestive tract tumor Orphanet:271835|UMLS:CN202527 owl:Class GO:0090276 biolink:NamedThing regulation of peptide hormone secretion Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046883 biolink:NamedThing regulation of hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000296 biolink:NamedThing epithelial cell of urethra An epithelial cell that is part of the urethra. tmpak2llvmy_mondo_relaxed.owl FMA:256165 cell owl:Class MONDO:0007490 biolink:NamedThing carpotarsal osteochondromatosis Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. tmpak2llvmy_mondo_relaxed.owl dominant carpotarsal osteochondromatosis|osteochondromatosis, dominant carpotarsal|dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas|Maroteaux Le Merrer Bensahel syndrome|Maroteaux-Le Merrer-Bensahel syndrome ICD10:D16.9|MESH:C565076|UMLS:C1300233|OMIM:127820|SCTID:389272007|Orphanet:2767|GARD:0001128 https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis owl:Class MONDO:0018230 biolink:NamedThing primary bone dysplasia tmpak2llvmy_mondo_relaxed.owl primary skeletal dysplasia|primary osteodysplasia Orphanet:364526 Editor note: ORDO has these as genetic, but some forms may not be genetic - check this owl:Class CHEBI:50996 biolink:NamedThing tertiary amino compound A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups. tmpak2llvmy_mondo_relaxed.owl tertiary amino compounds owl:Class CHEBI:50047 biolink:NamedThing organic amino compound A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. tmpak2llvmy_mondo_relaxed.owl organic amino compounds owl:Class MONDO:0033533 biolink:NamedThing combined oxidative phosphorylation deficiency 45 tmpak2llvmy_mondo_relaxed.owl COXPD45|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 OMIM:618951 owl:Class MONDO:0000732 biolink:NamedThing combined oxidative phosphorylation deficiency A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes. tmpak2llvmy_mondo_relaxed.owl GARD:0012893|OMIMPS:609060|DOID:0060286 https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency owl:Class UBERON:0003662 biolink:NamedThing forelimb muscle Any muscle organ that is part of a forelimb. tmpak2llvmy_mondo_relaxed.owl muscle of upper limb|fore limb muscle organ|wing muscle|arm muscle system|musculature of arm|upper limb skeletal muscle|muscle of free upper limb|musculature of the arm|free upper limb muscle|forelimb muscle organ owl:Class UBERON:0014794 biolink:NamedThing pectoral appendage muscle Any muscle organ that is part of a pectoral appendage (forelimb or pectoral fin). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003039 biolink:NamedThing nominal aphasia Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people. tmpak2llvmy_mondo_relaxed.owl anomic aphasia (finding)|anomic aphasia|anomia MESH:D000849|DOID:4541 owl:Class MONDO:0000598 biolink:NamedThing aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. tmpak2llvmy_mondo_relaxed.owl DOID:0060046|ICD10:R47.01 owl:Class MONDO:0015059 biolink:NamedThing progressive non-fluent aphasia Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. tmpak2llvmy_mondo_relaxed.owl non-fluent primary progressive aphasia|Agramatic variant of primary progressive aphasia|Agramatic variant of PPA|Primary Progressive Nonfluent aphasia|non-fluent variant PPA SCTID:716281000|ICD10:G31.0|GARD:0010793|MESH:D057178|Orphanet:100070|MedDRA:10029542|NCIT:C85025 https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia owl:Class MONDO:0017643 biolink:NamedThing frontotemporal neurodegeneration with movement disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227167|Orphanet:306708 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurodegenerative disease' MONDO_0005559 owl:Class ECTO:9001975 biolink:NamedThing exposure to antimicrobial food preservative An exposure to antimicrobial food preservative. tmpak2llvmy_mondo_relaxed.owl exposure to antimicrobial food preservative owl:Class ECTO:9002130 biolink:NamedThing exposure to food preservative An exposure to food preservative. tmpak2llvmy_mondo_relaxed.owl exposure to food preservative owl:Class MONDO:0010788 biolink:NamedThing Leber hereditary optic neuropathy Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. tmpak2llvmy_mondo_relaxed.owl Leber Hereditary optic atrophy|Leber optic atrophy|Leber's optic atrophy|Leber’s disease|Leber's hereditary optic neuropathy|LHON|optic atrophy, Leber type|Leber hereditary optic neuropathy NCIT:C84808|SCTID:58610003|ICD10:H47.2|DOID:705|OMIM:535000|UMLS:C0917796|Orphanet:104|ICD10:H47.22|MESH:D029242|GARD:0006870 owl:Class MONDO:0043878 biolink:NamedThing hereditary optic atrophy A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. tmpak2llvmy_mondo_relaxed.owl hereditary optic Atrophies|hereditary optic atrophy|atrophy, hereditary optic|Atrophies, hereditary optic|optic atrophy, hereditary UMLS:C0029125|OMIMPS:165500|NCIT:C34864|MESH:D015418|SCTID:26360005 owl:Class MONDO:0014720 biolink:NamedThing autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. tmpak2llvmy_mondo_relaxed.owl dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy|Treft-Sanborn-Carey syndrome|optic atrophy type 8|optic atrophy - deafness- polyneuropathy - myopathy|optic atrophy-deafness-polyneuropathy-myopathy syndrome|DOA+ GARD:0005243|DOID:0111340|ICD10:H47.2|UMLS:C1852267|UMLS:C4275164|SCTID:715374003|Orphanet:1215 owl:Class MONDO:0020250 biolink:NamedThing autosomal dominant optic atrophy An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. tmpak2llvmy_mondo_relaxed.owl ADOA|optic atrophy, autosomal dominant|dominant optic atrophy|DOA SCTID:2065009|MESH:D029241|UMLS:C0338508|ICD10:H47.2|NCIT:C84577|GARD:0011972|Orphanet:98672 owl:Class GO:0001956 biolink:NamedThing positive regulation of neurotransmitter secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a neurotransmitter. tmpak2llvmy_mondo_relaxed.owl activation of neurotransmitter secretion|up regulation of neurotransmitter secretion|upregulation of neurotransmitter secretion|stimulation of neurotransmitter secretion|up-regulation of neurotransmitter secretion owl:Class GO:0050806 biolink:NamedThing positive regulation of synaptic transmission Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. tmpak2llvmy_mondo_relaxed.owl up regulation of synaptic transmission|up-regulation of synaptic transmission|upregulation of synaptic transmission|stimulation of synaptic transmission|activation of synaptic transmission owl:Class GO:0032838 biolink:NamedThing plasma membrane bounded cell projection cytoplasm All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099568 biolink:NamedThing cytoplasmic region Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031341 biolink:NamedThing regulation of cell killing Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050794 biolink:NamedThing regulation of cellular process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpak2llvmy_mondo_relaxed.owl regulation of cellular physiological process owl:Class MONDO:0100109 biolink:NamedThing Zinner syndrome A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class GO:0045944 biolink:NamedThing positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl positive regulation of transcription from RNA polymerase II promoter, global|activation of global transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|stimulation of global transcription from RNA polymerase II promoter|up-regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from Pol II promoter|up regulation of global transcription from RNA polymerase II promoter|up regulation of transcription from RNA polymerase II promoter|up-regulation of global transcription from RNA polymerase II promoter|upregulation of transcription from RNA polymerase II promoter|activation of transcription from RNA polymerase II promoter|upregulation of global transcription from RNA polymerase II promoter|stimulation of transcription from RNA polymerase II promoter|positive regulation of global transcription from Pol II promoter owl:Class GO:0006357 biolink:NamedThing regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. tmpak2llvmy_mondo_relaxed.owl regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter, global|global transcription regulation from Pol II promoter|regulation of global transcription from Pol II promoter|regulation of transcription from RNA polymerase II promoter|regulation of transcription from Pol II promoter owl:Class GO:1902571 biolink:NamedThing regulation of serine-type peptidase activity Any process that modulates the frequency, rate or extent of serine-type peptidase activity. tmpak2llvmy_mondo_relaxed.owl regulation of serine protease activity owl:Class MONDO:0000890 biolink:NamedThing Zika virus congenital syndrome A congenital birth syndrome that arises from materal Zika infection. tmpak2llvmy_mondo_relaxed.owl ZIKV congenital infection|congenital Zika virus infection|congenital Zika syndrome DOID:0080180 owl:Class MONDO:0100120 biolink:NamedThing vector-borne disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. tmpak2llvmy_mondo_relaxed.owl vector-borne infection|vector-borne infectious disease https://orcid.org/0000-0002-2825-0621 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000936 biolink:NamedThing syphilitic meningitis An infectious meningitis caused by infection with Treponema. tmpak2llvmy_mondo_relaxed.owl Treponema caused infectious meningitis|Treponema infectious meningitis|meningeal syphilis|meningitis, syphilitic|syphilitic aseptic meningitis DOID:10073|GARD:0008731|UMLS:C0153166|MESH:C536775|ICD9:094.2|SCTID:301086002 owl:Class MONDO:0004796 biolink:NamedThing infectious meningitis Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. tmpak2llvmy_mondo_relaxed.owl meningitis|infectious meningitis|infective meningitis MESH:D008581|DOID:9471|SCTID:312216007|ICD10:G03|EFO:0000584|ICD9:321.8|NCIT:C79598|HP:0001287|ICD10:G03.9|ICD9:322|ICD9:322.9 owl:Class MONDO:0009562 biolink:NamedThing beta-mannosidosis Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. tmpak2llvmy_mondo_relaxed.owl beta-mannosidosis|Beta-mannosidase deficiency|lysosomal Beta-mannosidase deficiency|beta-mannosidase deficiency|lysosomal beta-mannosidase deficiency|MANSB|mannosidosis, BETA A, lysosomal|Beta-D-mannosidosis OMIM:248510|NCIT:C84596|DOID:3633|ICD9:271.8|ICD10:E77.1|Orphanet:118|SCTID:238047006|MESH:D044905|UMLS:C4048196|GARD:0000869 owl:Class CL:0012000 biolink:NamedThing astrocyte of the forebrain An astrocyte of the forebrain. tmpak2llvmy_mondo_relaxed.owl forebrain astrocyte tberardini cell owl:Class CL:0000127 biolink:NamedThing astrocyte A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury. tmpak2llvmy_mondo_relaxed.owl astrocytic glia FMA:54537|BTO:0000099|CALOHA:TS-0060 Astrocytes are reportedly CD68-negative, CD121a-positive, CD184-positive, CD192-positive, CRF-positive, EGFR-positive, GFAP-positive, GLUT1-positive, MBP-negative, and NGFR-positive. cell owl:Class MONDO:0011296 biolink:NamedThing Meckel syndrome, type 2 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. tmpak2llvmy_mondo_relaxed.owl Meckel-Gruber syndrome, type 2|Meckel syndrome type 2|Meckel syndrome, type 2|Meckel syndrome 2|TMEM216 Meckel syndrome|MKS2|Meckel syndrome caused by mutation in TMEM216 MESH:C536131|UMLS:C1864148|DOID:0070116|ICD10:Q61.9|GARD:0008743|OMIM:603194 https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2 owl:Class MONDO:0018921 biolink:NamedThing Meckel syndrome Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. tmpak2llvmy_mondo_relaxed.owl Meckel-Gruber syndrome SCTID:29076005|Orphanet:564|UMLS:C0265215|GARD:0003436|DOID:0050778|OMIMPS:249000|ICD10:Q61.9|ICD9:753.10|NCIT:C98978|ICD9:753.1|ICD9:759.89 owl:Class MONDO:0003557 biolink:NamedThing optic nerve sheath meningioma A meningioma that affects the sheath of the optic nerve. tmpak2llvmy_mondo_relaxed.owl optic nerve sheath meningioma|meningioma of the optic nerve sheath|meningioma of optic nerve sheath DOID:5632|NCIT:C4538|ICD9:237.9|UMLS:C0346328|SCTID:254978007 Editor note: TODO axiomatize owl:Class MONDO:0016642 biolink:NamedThing meningioma A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl primary meningeal tumor|intracranial meningioma|meningioma (disease)|meningioma|meningothelial cell tumor|supratentorial meningioma|meningeal neoplasm meningioma (disease) HP:0002858|MedDRA:10027191|DOID:3565|ICDO:9530/0|Orphanet:2495|GARD:0007015|NCIT:C3230|ONCOTREE:MNG|UMLS:C0025286|MESH:D008579|ICD10:D32.9|SCTID:302820008 owl:Class UBERON:0014871 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 1 A distal epiphysis that is part of a distal phalanx of pedal digit 1. tmpak2llvmy_mondo_relaxed.owl head of distal phalanx of first digit of foot|distal end of distal phalanx of big toe|ungual tuberosity of distal phalanx of big toe|distal epiphysis of distal phalanx of big toe|head of distal phalanx of big toe|distal epiphysis of distal phalanx of pedal digit I|head of distal phalanx of great toe owl:Class UBERON:0004379 biolink:NamedThing distal epiphysis An epiphysis that is on the distal side of the bone. tmpak2llvmy_mondo_relaxed.owl distal end of long bone owl:Class CHEBI:33860 biolink:NamedThing aromatic amine An amino compound in which the amino group is linked directly to an aromatic system. tmpak2llvmy_mondo_relaxed.owl arylamines|aromatic amines|aryl amines|aryl amine|arylamine owl:Class CHEBI:33659 biolink:NamedThing organic aromatic compound tmpak2llvmy_mondo_relaxed.owl organic aromatic compounds owl:Class MONDO:0045044 biolink:NamedThing ligament disease A disease or disorder that involves the ligament. tmpak2llvmy_mondo_relaxed.owl ligament disease or disorder|disorder of ligament|disease of ligament|disease or disorder of ligament SCTID:60492000|UMLS:C0263976 owl:Class HP:0001702 biolink:NamedThing Abnormal tricuspid valve morphology Any structural anomaly of the tricuspid valve. tmpak2llvmy_mondo_relaxed.owl Abnormality of the tricuspid valve UMLS:C4025753|EPCC:06.01.00 HP:0031440 human_phenotype owl:Class HP:0006705 biolink:NamedThing Abnormal atrioventricular valve morphology An abnormality of an atrioventricular valve. tmpak2llvmy_mondo_relaxed.owl Abnormality of the atrioventricular valves UMLS:C4024995 peter 2008-03-29T03:34:00Z HP:0006675 human_phenotype owl:Class MONDO:0003890 biolink:NamedThing infiltrating bladder urothelial carcinoma An invasive transitional cell carcinoma that arises from the urinary bladder urothelium. tmpak2llvmy_mondo_relaxed.owl invasive bladder urothelial carcinoma|invasive transitional cell carcinoma of the urinary bladder|infiltrating transitional cell carcinoma of the urinary bladder|invasive bladder transitional cell carcinoma|infiltrating bladder urothelial carcinoma DOID:6477|NCIT:C27885|UMLS:C1334281 owl:Class MONDO:0005611 biolink:NamedThing bladder transitional cell carcinoma The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival. tmpak2llvmy_mondo_relaxed.owl urothelial bladder carcinoma|urinary bladder transitional cell carcinoma|urinary bladder urothelial carcinoma|transitional cell carcinoma of bladder|transitional cell carcinoma of the urinary bladder|bladder transitional cell carcinoma|BLCA|urothelial carcinoma of the urinary bladder|bladder urothelial cancer|bladder urothelial carcinoma EFO:0006544|UMLS:C0279680|NCIT:C39851|DOID:4006|ONCOTREE:BLCA|SCTID:255109008 owl:Class MONDO:0011934 biolink:NamedThing dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). tmpak2llvmy_mondo_relaxed.owl dermatofibrosarcoma|dermatofibrosarcoma protuberans|familial dermatofibrosarcoma protuberans (subtype)|metastatic dermatofibrosarcoma protuberans (subtype)|giant cell fibroblastoma|DFSP NCIT:C4683|MedDRA:10057070|DOID:3507|ICDO:8832/3|ONCOTREE:DFSP|MESH:D018223|Orphanet:31112|UMLS:C0392784|GARD:0009569|ICD10:C49.9|SCTID:276799004|OMIM:607907 https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans owl:Class MONDO:0013695 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 6 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene. tmpak2llvmy_mondo_relaxed.owl hereditary nonpolyposis colon cancer caused by mutation in TGFBR2|HNPCC6|TGFBR2 hereditary nonpolyposis colon cancer|colon cancer, hereditary nonpolyposis, type 6|colorectal cancer, hereditary nonpolyposis, type 6 DOID:0070273|OMIM:614331|UMLS:C1860896|MESH:C566039 owl:Class MONDO:0018630 biolink:NamedThing hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age. tmpak2llvmy_mondo_relaxed.owl familial nonpolyposis colorectal cancer|familial nonpolyposis colon cancer|HNPCC|Hereditary nonpolyposis colorectal cancer (HNPCC)|colorectal cancer, hereditary nonpolyposis|hereditary nonpolyposis colorectal cancer|hereditary nonpolyposis colon cancer SCTID:315058005|Orphanet:443909|NCIT:C120083|OMIMPS:120435|UMLS:CN237674 https://github.com/monarch-initiative/mondo/issues/1673|https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc owl:Class UBERON:0001905 biolink:NamedThing pineal body A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399). tmpak2llvmy_mondo_relaxed.owl frontal organ|epiphysis|pineal gland (Galen)|Pi|glandula pinealis|pineal organ|corpus pineale|epiphysis cerebri|stirnorgan|pineal|conarium|pineal gland owl:Class UBERON:0003296 biolink:NamedThing gland of diencephalon Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. tmpak2llvmy_mondo_relaxed.owl interbrain gland|diencephalon gland owl:Class UBERON:0001823 biolink:NamedThing nasal cartilage One of the cartilage structures in the nose that provide form and support[WP]. tmpak2llvmy_mondo_relaxed.owl cartilage of nose owl:Class UBERON:0007844 biolink:NamedThing cartilage element Skeletal element that is composed of cartilage tissue and may be permanent or transient. tmpak2llvmy_mondo_relaxed.owl cartilage|cartilaginous element|cartilage organ|chondrogenic element owl:Class MONDO:0010621 biolink:NamedThing CHILD syndrome CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. tmpak2llvmy_mondo_relaxed.owl child nevus|CHILD syndrome|congenital hemidysplasia with ichthyosiform erythroderma and limb defects|congenital hemidysplasia with ichthyosiform nevus and limbs defects|child syndrome|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|ichthyosis, child syndrome|congenital hemidysplasia with ichthyosiform nevus and limb defects OMIM:308050|ICD9:759.89|SCTID:17608003|ICD10:Q87.8|Orphanet:139|UMLS:C0265267|MESH:C562515|GARD:0006039 https://rarediseases.info.nih.gov/diseases/6039/child-syndrome owl:Class MONDO:0003341 biolink:NamedThing subungual glomus tumor A glomus tumor arising in the finger and usually associated with pain. tmpak2llvmy_mondo_relaxed.owl subungual glomus tumor UMLS:C1304510|SCTID:403973004|NCIT:C36079|DOID:5236|ICD9:228.09 owl:Class MONDO:0002295 biolink:NamedThing skin glomus tumor A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site. tmpak2llvmy_mondo_relaxed.owl glomus tumor of the skin|glomus skin neoplasm|glomus tumor of skin|glomus neoplasm of the skin|glomus neoplasm of skin|skin glomus neoplasm|glomus skin tumor|zone of skin glomus tumor NCIT:C4491|SCTID:254795008|DOID:2430|UMLS:C0346083 owl:Class MONDO:0008075 biolink:NamedThing neurofibromatosis type 3 Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium. tmpak2llvmy_mondo_relaxed.owl neurilemmomatosis, congenital cutaneous|schwannomatosis|congenital cutaneous neurilemmomatosis|neurilemmomatosis|neurilemmomatosis congenital cutaneous|Schwannomatosis|NF3|Neurinomatosis|neurinoma Orphanet:93921|ICD10:Q85.0|ICD9:237.73|OMIMPS:162091|DOID:3204|GARD:0004768|UMLS:C1335929|ICDO:9560/1|NCIT:C6557|ICD10:Q85.03 owl:Class GO:0009968 biolink:NamedThing negative regulation of signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. tmpak2llvmy_mondo_relaxed.owl down-regulation of signal transduction|inhibition of signal transduction|negative regulation of signaling pathway|down regulation of signal transduction|downregulation of signal transduction|negative regulation of signalling pathway owl:Class GO:0010648 biolink:NamedThing negative regulation of cell communication Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905952 biolink:NamedThing regulation of lipid localization Any process that modulates the frequency, rate or extent of lipid localization. tmpak2llvmy_mondo_relaxed.owl regulation of lipid localisation owl:Class MONDO:0002516 biolink:NamedThing digestive system cancer A primary or metastatic malignant neoplasm involving any part of the digestive system. tmpak2llvmy_mondo_relaxed.owl malignant gastrointestinal system neoplasm|malignant digestive system neoplasm|gastrointestinal system cancer|malignant neoplasm of digestive system|GI tumor|gastrointestinal tract cancer|cancer of digestive system|digestive system cancer|malignant gastrointestinal neoplasm DOID:3119|ICD10:C26.9|NCIT:C4890|ICD10:C15.C26|ICD9:239.0 owl:Class MONDO:0032895 biolink:NamedThing developmental and epileptic encephalopathy, 83 tmpak2llvmy_mondo_relaxed.owl Barakat-Perenthaler Syndrome|EIEE83|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83|epileptic encephalopathy, early infantile, 83|DEE83 OMIM:618744 owl:Class GO:0061138 biolink:NamedThing morphogenesis of a branching epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002009 biolink:NamedThing morphogenesis of an epithelium The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. tmpak2llvmy_mondo_relaxed.owl epithelium morphogenesis owl:Class UBERON:0007010 biolink:NamedThing cleaving embryo Organism at the cleavage stage. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000468 biolink:NamedThing multicellular organism Anatomical structure that is an individual member of a species and consists of more than one cell. tmpak2llvmy_mondo_relaxed.owl whole organism|animal|Koerper|multi-cellular organism|organism|body|whole body owl:Class UBERON:0003330 biolink:NamedThing submucosa of rectum The submucous layer of the wall of the rectum. tmpak2llvmy_mondo_relaxed.owl rectal submucosa|rectum submucosa|tela submucosa recti owl:Class MONDO:0001468 biolink:NamedThing synovial plica syndrome tmpak2llvmy_mondo_relaxed.owl plica syndrome|synovial plica of knee ICD10:M67.5|ICD9:727.83|UMLS:C0410485|ICD9:727.9|SCTID:240171001|DOID:12225 owl:Class MONDO:0006816 biolink:NamedThing arthropathy Any disorder of the joints. tmpak2llvmy_mondo_relaxed.owl Joint ankylosis of the ankle and foot|ankylosis of joint of pelvic region and thigh|ankylosis of multiple joints|Joint ankylosis of the upper arm|ankylosis of joint of hand|ankylosis of upper arm joint|arthropathy|Joint ankylosis of the hand|ankylosis of joint of multiple sites|joint disease|Joint ankylosis of the shoulder region|ankylosis of joint of ankle and/or foot|Joint ankylosis of the pelvic region and thigh|joint disorder|ankylosis of ankle and foot joint|ankylosis of hand joint|infectious arthropathy|disorder of skeletal joint|ankylosis of forearm joint|ankylosis of joint of upper arm|skeletal joint disease or disorder|ankylosis of joint of forearm|Joint ankylosis of the forearm|ankylosis of joint of shoulder region|ankylosis of lower leg joint|ankylosis of joint of lower leg|Joint ankylosis of the ankle and/or foot|disease of skeletal joint|disorder, Joint|arthrosis|Joint disorder|disease or disorder of skeletal joint|disorder of joint|skeletal joint disease|Joint ankylosis of the lower leg ICD9:719.90|ICD10:M19.90|ICD9:716.98|SCTID:399269003|ICD9:716.9|ICD10:M00-M02|ICD9:719.89|NCIT:C35760|UMLS:C0022408|ICD9:711|ICD10:M15.M19|MESH:D007592|ICD9:716.88|ICD10:M25.9|EFO:1000999|ICD9:719.98|ICD10:M12.9|ICD9:719.88|ICD9:716.90|ICD9:719.9|ICD9:719.80|ICD9:716.80|DOID:381|MedDRA:10003285 owl:Class MONDO:0003761 biolink:NamedThing leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes. tmpak2llvmy_mondo_relaxed.owl melanoma of the leptomeninges|leptomeningeal melanoma|meningeal melanoma|leptomeninx melanoma|leptomeninx melanoma (disease)|melanoma (disease) of leptomeninx|melanoma of leptomeninges|malignant melanoma of meninges SCTID:277530005|UMLS:C1334386|DOID:6085|NCIT:C5317 Editor note: TODO check meninx vs leptomeninges owl:Class MONDO:0012604 biolink:NamedThing isolated microphthalmia 3 Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene. tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated 3|isolated microphthalmia caused by mutation in RAX|isolated microphthalmia 3|isolated microphthalmia caused by mutation in rax|MCOP3|rax isolated microphthalmia|RAX isolated microphthalmia|microphthalmia, isolated type 3|isolated microphthalmia type 3 DOID:0060842|OMIM:611038|UMLS:C1970237|ICD10:Q11.0|MESH:C567025 owl:Class MONDO:0000062 biolink:NamedThing isolated microphthalmia A microphthalmia that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic microphthalmia|microphthalmia, isolated DOID:0080637|OMIMPS:251600 owl:Class UBERON:0001484 biolink:NamedThing articular capsule An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl capsulae articulares|capsula articularis|joint capsule|fibrous capsule of joint|joint fibrous capsule owl:Class UBERON:0000094 biolink:NamedThing membrane organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA] tmpak2llvmy_mondo_relaxed.owl membrane of organ|membrane owl:Class UBERON:0010899 biolink:NamedThing synchronous hermaphroditic organism Hermaphroditic organism that produces both male and female gametes at the same time. tmpak2llvmy_mondo_relaxed.owl serially hermaphroditic organism|simultaneous hermaphroditic organism owl:Class GO:0002562 biolink:NamedThing somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002200 biolink:NamedThing somatic diversification of immune receptors The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009910 biolink:NamedThing Wiedemann-Rautenstrauch syndrome Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism. tmpak2llvmy_mondo_relaxed.owl neonatal progeroid syndrome|Wiedemann-Rautenstrauch syndrome|Wiedemann Rautenstrauch syndrome|progeroid syndrome, neonatal|progeroid syndrome neonatal MESH:C536423|SCTID:238874008|OMIM:264090|Orphanet:3455|ICD9:259.8|NCIT:C121565|UMLS:C0406586|ICD10:E34.8|GARD:0000330 owl:Class MONDO:0020162 biolink:NamedThing secondary ectropion tmpak2llvmy_mondo_relaxed.owl Orphanet:98571|ICD10:H02.1 owl:Class GO:0071383 biolink:NamedThing cellular response to steroid hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032870 biolink:NamedThing cellular response to hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0025015 biolink:NamedThing Abnormal vascular morphology tmpak2llvmy_mondo_relaxed.owl 2016-08-12 11:24:56+00:00 HPO:probinson human_phenotype owl:Class MONDO:0014180 biolink:NamedThing epidermolysis bullosa simplex due to BP230 deficiency tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa simplex, autosomal recessive type 2|DST-related epidermolysis bullosa simplex|EBSB2|EBS-AR BP230|epidermolysis bullosa simplex, autosomal recessive 2 OMIM:615425|ICD10:Q81.0|UMLS:C3809470|Orphanet:412181 owl:Class MONDO:0015551 biolink:NamedThing basal epidermolysis bullosa simplex A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes. tmpak2llvmy_mondo_relaxed.owl stratum basale of epidermis epidermolysis bullosa simplex|epidermolysis bullosa simplex of stratum basale of epidermis ICD10:Q81.0|UMLS:C4302031|Orphanet:158665|SCTID:723163000 owl:Class MONDO:0015458 biolink:NamedThing intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Da Silva syndrome|intellectual disability - hypoplastic corpus callosum - preauricular tag GARD:0012487|Orphanet:1495|ICD10:Q87.8|SCTID:722455002|UMLS:CN199578 owl:Class UBERON:0006761 biolink:NamedThing corneo-scleral junction the edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm tmpak2llvmy_mondo_relaxed.owl cornea limbus|corneal limbus|sclerocorneal junction|limbus corneae|sclerocorneal limbus|corneal-scleral limbus|corneoscleral junction owl:Class UBERON:0007651 biolink:NamedThing anatomical junction An anatomical structure that connects two structures tmpak2llvmy_mondo_relaxed.owl junction|anatomical junction owl:Class MONDO:0011803 biolink:NamedThing hereditary spastic paraplegia 7 Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 7|spastic paraplegia 7|hereditary spastic paraplegia 7|spastic paraplegia type 7|SPG7 hereditary spastic paraplegia|autosomal recessive spastic paraplegia 7|spastic paraplegia 7, autosomal recessive|hereditary spastic paraplegia paraplegin type|SPG7|hereditary spastic paraplegia caused by mutation in SPG7 MESH:C564599|OMIM:607259|Orphanet:99013|UMLS:C1846564|DOID:0110816|ICD10:G11.4|GARD:0004927|UMLS:C3711370|SCTID:715776003 owl:Class MONDO:0001835 biolink:NamedThing facial paralysis Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis. tmpak2llvmy_mondo_relaxed.owl face palsy|palsy of face|facial palsy DOID:13934|ICD10:G51.0|UMLS:C0015469|MESH:D005158|SCTID:280816001 owl:Class MONDO:0032918 biolink:NamedThing developmental and epileptic encephalopathy, 84 tmpak2llvmy_mondo_relaxed.owl EIEE84|epileptic encephalopathy, early infantile, 84|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84|Jamuar Syndrome|DEE84 OMIM:618792 owl:Class MONDO:0019474 biolink:NamedThing hepatosplenic T-cell lymphoma An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis. tmpak2llvmy_mondo_relaxed.owl HSTCL|Hepatosplenic gamma/Delta T-cell lymphoma NCIT:C8459|UMLS:C1333984|ICDO:9716/3|Orphanet:86882|ICD10:C86.1|ICD9:202.80|SCTID:445406001|ONCOTREE:HSTCL|MedDRA:10066957 owl:Class MONDO:0015760 biolink:NamedThing T-cell non-Hodgkin lymphoma A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003 tmpak2llvmy_mondo_relaxed.owl T-cell NHL|T-cell and NK-cell non-Hodgkin's lymphoma|non-Hodgkin's T-cell lymphoma|T cell lymphoma|T-cell lymphoma|T-cell non-Hodgkin's lymphoma|T-cell and NK-cell non-Hodgkin lymphoma|T-cell non-Hodgkin lymphoma MedDRA:10042971|Orphanet:171918|SCTID:109978004|NCIT:C3466|UMLS:C0079772|ICD9:202.70|MESH:D016399 owl:Class ENVO:01001205 biolink:NamedThing lithification A process during which sediments compact under pressure, expel connate fluids, and gradually become solid sedimentary rock. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:03000043 biolink:NamedThing material transformation process A process during which a portion of some environmental material is converted into a different material or a collection of materials. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1900404 biolink:NamedThing positive regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of DNA repair. tmpak2llvmy_mondo_relaxed.owl activation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|upregulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up-regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|stimulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter owl:Class MONDO:0003665 biolink:NamedThing cervical endometrioid adenocarcinoma A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. tmpak2llvmy_mondo_relaxed.owl uterine cervix endometrioid adenocarcinoma|endometrioid adenocarcinoma of uterine cervix|endometrioid carcinoma of cervix|endometrioid carcinoma of the cervix uteri|cervical endometrioid adenocarcinoma|endometrioid carcinoma of the cervix|endometrioid adenocarcinoma of the uterine cervix|endometrioid carcinoma of cervix uteri|cervical endometrioid carcinoma|endometrioid carcinoma of the uterine cervix|cervix uteri endometrioid adenocarcinoma|endometrioid adenocarcinoma of cervix uteri|uterine cervix endometrioid carcinoma|endometrioid carcinoma of uterine cervix|cervix uteri endometrioid carcinoma|cervix endometrioid adenocarcinoma|endometrioid adenocarcinoma of cervix|endometrioid adenocarcinoma of the cervix|endometrioid adenocarcinoma of the cervix uteri|cervix endometrioid carcinoma NCIT:C6343|EFO:1000164|ONCOTREE:CEEN|UMLS:C1332913|DOID:5830 owl:Class MONDO:0005153 biolink:NamedThing cervical adenocarcinoma An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma - cervix|adenocarcinoma of uterine cervix|adenocarcinoma of cervix|uterine cervix adenocarcinoma|adenocarcinoma of the cervix|adenocarcinoma of the uterine cervix|adenocarcinoma of the cervix uteri|cervix uteri adenocarcinoma|adenocarcinoma cervix uteri|cervix adenocarcinoma|cervical adenocarcinoma|adenocarcinoma of cervix uteri NCIT:C4029|SCTID:254887002|DOID:3702|EFO:0001416|ONCOTREE:CEAD owl:Class UBERON:0001732 biolink:NamedThing pharyngeal tonsil the lymph tissue in the roof and posterior wall of the nasopharynx tmpak2llvmy_mondo_relaxed.owl Rachenmandel|tonsil of Luschka|adenoid|tonsilla pharyngealis|nasopharyngeal tonsil|tonsilla pharyngea owl:Class UBERON:0012330 biolink:NamedThing nasal-associated lymphoid tissue The lymphocytic cell population present in the mucosa of the nasopharyngeal duct of some animals. tmpak2llvmy_mondo_relaxed.owl naso-pharyngeal lymphoid tissue|NALT owl:Class MONDO:0014159 biolink:NamedThing autosomal recessive spinocerebellar ataxia 14 Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). tmpak2llvmy_mondo_relaxed.owl SPARCA|SPTBN2 autosomal recessive cerebellar ataxia|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|spectrin-associated autosomal recessive cerebellar ataxia type 1|spinocerebellar ataxia, autosomal recessive type 14|autosomal recessive cerebellar ataxia caused by mutation in SPTBN2|autosomal recessive spinocerebellar ataxia type 14|SPARCA1|Ataxie spinocérébelleuse à début infantile avec retard psychomoteur|autosomal recessive cerebellar ataxia-cognitive defect syndrome|SCAR14|spectrin-associated autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 14 DOID:0080058|SCTID:763351003|ICD10:G11.1|Orphanet:352403|UMLS:C3809327|OMIM:615386 owl:Class MONDO:0015244 biolink:NamedThing autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, autosomal recessive|arca UMLS:CN226644|DOID:0050950|Orphanet:1172|OMIMPS:213200 owl:Class UBERON:0001459 biolink:NamedThing skin of external ear A zone of skin that is part of a external ear [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl zone of skin of auricular region of head|outer ear zone of skin|external ear skin|zone of skin of outer ear|zone of skin of auricular region|zone of skin of external ear|ear skin|external ear zone of skin|auricular region zone of skin|auricular region of head zone of skin owl:Class UBERON:0000014 biolink:NamedThing zone of skin Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. tmpak2llvmy_mondo_relaxed.owl region of skin|skin zone|skin|portion of skin|skin region owl:Class MONDO:0014061 biolink:NamedThing Steel syndrome A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. tmpak2llvmy_mondo_relaxed.owl dislocated hips and radial heads, carpal coalition, scoliosis, and short stature|STLS|bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|steel syndrome ICD10:Q87.5|UMLS:C3554594|Orphanet:438117|OMIM:615155 owl:Class UBERON:0001633 biolink:NamedThing basilar artery A major artery that supplues the hindbrain and runs along the ventral keel of the hindbrain. tmpak2llvmy_mondo_relaxed.owl BA owl:Class UBERON:0035307 biolink:NamedThing branch of vertebral artery tmpak2llvmy_mondo_relaxed.owl vertebral arterial branch owl:Class MONDO:0000276 biolink:NamedThing Powassan encephalitis A disease caused by infection with Powassan virus. tmpak2llvmy_mondo_relaxed.owl Powassan virus disease or disorder|powassan encephalitis virus infection|Powassan virus caused disease or disorder|Powassan virus infectious disease|encephalitis, powassan UMLS:C0032858|DOID:0050179|SCTID:416707008|UMLS:C1563215|ICD9:063.8 owl:Class UBERON:0005753 biolink:NamedThing caudal part of nephrogenic cord The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. tmpak2llvmy_mondo_relaxed.owl rear part of nephrogenic cord|rear portion of nephrogenic cord|caudal region of nephrogenic cord|caudal portion of nephrogenic cord owl:Class CL:0002101 biolink:NamedThing CD38-positive naive B cell A CD38-positive naive B cell is a mature B cell that has the phenotype CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery. tmpak2llvmy_mondo_relaxed.owl CD38-positive naive B lymphocyte|CD38+ naive B-lymphocyte|CD38-positive naive B-cell|CD38-positive naive B-lymphocyte|CD38+ naive B lymphocyte|CD38+ naive B cell|CD38+ naive B-cell cell owl:Class CL:0000788 biolink:NamedThing naive B cell A naive B cell is a mature B cell that has the phenotype surface IgD-positive, surface IgM-positive, CD20-positive, CD27-negative and that has not yet been activated by antigen in the periphery. tmpak2llvmy_mondo_relaxed.owl naive B-cell|naive B-lymphocyte|naive B lymphocyte This cell type is compatible with the HIPC Lyoplate markers for 'naive B cell'. Per DSD: Naive B cells are also reportedly CD10-negative, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD25-negative, CD27-negative, CD34-negative, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD80-negative, CD81-positive, CD84-positive, CD86-negative, CD95-negative, CD138-negative, CD150-positive, CD184/CXCR4-positive, CD185/CXCR5-positive, CD196/CCR6-positive, CD200-positive, CD229-positive, CD243-positive, CD289-positive, CD290-positive, CD352-positive, MHCII/HLA-DR-positive, cadherin 9-positive, and sIgH-positive, Transcription factors: Pax5-positive, ETS1-positive, FOXO1A-positive, KLF4-positive, KLF9-positive, MiTF-positive, OBF1-positive, PLZF-positive, and SpiB-positive. cell owl:Class MONDO:0007745 biolink:NamedThing Gilbert syndrome An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. tmpak2llvmy_mondo_relaxed.owl hyperbilirubinemia, Arias type|hyperbilirubinemia, Gilbert type|Gilbert's disease|hyperbilirubinemia 1|hereditary nonhemolytic jaundice|Gilbert's syndrome|Gilbert-Meulengracht syndrome|constitutional hyperbilirubinemia|Gilbert disease|Gilbert syndrome SCTID:27503000|DOID:2739|MESH:D005878|NCIT:C84729|ICD10:E80.4|EFO:0005556|GARD:0006507|OMIM:143500 owl:Class MONDO:0010906 biolink:NamedThing orofacial cleft 11 Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene. tmpak2llvmy_mondo_relaxed.owl orofacial cleft type 11|cleft Lip, congenital Healed|orofacial cleft caused by mutation in BMP4|cleft lip with or without cleft palate, nonsyndromic, 11|BMP4 orofacial cleft|OFC11|orofacial cleft 11|congenital Healed cleft lip UMLS:C2677434|DOID:0080404|OMIM:600625 owl:Class MONDO:0016044 biolink:NamedThing cleft lip/palate Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. tmpak2llvmy_mondo_relaxed.owl FLP|cleft lip and palate|alveolar cleft lip and palate|cleft lip-alveolus-palate syndrome ICD10:Q37.9|ICD10:Q37.8|Orphanet:199306|MedDRA:10009260|SCTID:66948001|ICD9:749.25|ICD10:Q37.2|ICD10:Q37.0|ICD10:Q37.5|ICD10:Q37.3|ICD10:Q37.4|ICD10:Q37.1|ICD9:749.20 owl:Class MONDO:0008145 biolink:NamedThing Ollier disease A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. tmpak2llvmy_mondo_relaxed.owl enchondromatosis with haemangiomata|multiple enchondromatosis|enchondromatosis, multiple, Ollier type|Ollier disease|enchondromatosis|Kast's syndrome|dyschondroplasia|Ollier's disease|enchondromatosis, multiple|multiple cartilaginous enchondroses|osteochondromatosis DOID:4624|UMLS:C0014084|GARD:0007251|ICD10:Q78.4|SCTID:268274005|OMIM:166000|MedDRA:10014642|UMLS:CN203308|Orphanet:296|NCIT:C3008|UMLS:C0206641 https://rarediseases.info.nih.gov/diseases/7251/ollier-disease owl:Class MONDO:0020063 biolink:NamedThing malformation syndrome with hamartosis tmpak2llvmy_mondo_relaxed.owl Dysmorphologic diseases with phakomatosis 2022-03-01 UMLS:CN206967|Orphanet:98196 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class MONDO:0013870 biolink:NamedThing TMEM165-CDG TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12). tmpak2llvmy_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type IIk|CDG IIk|congenital disorder of glycosylation, type IIk|CDG-IIk|congenital disorder of glycosylation type 2k|congenital disorder of glycosylation type IIk|TMEM165-CDG (CDG-IIk)|CDG syndrome type IIk|CDG2K GARD:0012413|Orphanet:314667|DOID:0070263|OMIM:614727|ICD10:E77.8|SCTID:732252005|UMLS:C3553571 owl:Class MONDO:0017740 biolink:NamedThing disorder of protein N-glycosylation A disease that has its basis in the disruption of protein N-linked glycosylation. tmpak2llvmy_mondo_relaxed.owl disorder of protein N-linked glycosylation|protein N-linked glycosylation disease UMLS:CN227187|Orphanet:309347|ICD10:E77.8 owl:Class UBERON:0004554 biolink:NamedThing hindlimb digital artery A digital artery that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hindlimb digital arteries|digital artery of foot owl:Class UBERON:0003516 biolink:NamedThing hindlimb blood vessel A blood vessel that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hind limb blood vessel|blood vessel of lower extremity|blood vessel of hind limb|blood vessel of hindlimb owl:Class MONDO:0024299 biolink:NamedThing vitamin D-dependent rickets tmpak2llvmy_mondo_relaxed.owl VDDR UMLS:C0221468|SCTID:68295002 owl:Class MONDO:0005520 biolink:NamedThing rickets Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. tmpak2llvmy_mondo_relaxed.owl rickets (disease)|vitamin D hydroxylation-deficient rickets|rachitis|hypovitaminosis D|active rickets|vitamin-D deficiency rickets|rickets|vitamin D deficiency disease|nutritional rickets rickets (disease) NCIT:C26878|MESH:D012279|ICD9:268.0|DOID:10609|ICD10:E55.0|GARD:0005700|HP:0002748|EFO:0005583|UMLS:C0035579|SCTID:41345002 owl:Class MONDO:0044655 biolink:NamedThing c12orf65-related combined oxidative phosphorylation defect tmpak2llvmy_mondo_relaxed.owl C12ORF65-related COXPD Orphanet:497623 owl:Class MONDO:0015072 biolink:NamedThing liver neuroendocrine carcinoma An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. tmpak2llvmy_mondo_relaxed.owl neuroendocrine carcinoma of liver|liver neuroendocrine carcinoma|primary hepatic neuroendocrine carcinoma|PHNEC|primary liver neuroendocrine carcinoma|hepatic neuroendocrine carcinoma|HNEC|liver neuroendocrine cancer Orphanet:100085|NCIT:C96787|UMLS:CN197365|UMLS:C3273031|SCTID:716652006|ICD10:C22.7 owl:Class CL:0002433 biolink:NamedThing CD69-positive, CD4-positive single-positive thymocyte A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. tmpak2llvmy_mondo_relaxed.owl intermediate CD4-single-positive|T.4SP69+.Th tmeehan 2010-10-21T02:46:02Z cell owl:Class CL:0000810 biolink:NamedThing CD4-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative. tmpak2llvmy_mondo_relaxed.owl CD4-positive, alpha-beta immature T lymphocyte|CD4-positive, alpha-beta immature T-lymphocyte|SP CD4 cell|CD4-positive, alpha-beta immature T-cell cell owl:Class HGNC:2190 biolink:NamedThing COL13A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014883 biolink:NamedThing hypertrophic cardiomyopathy 26 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene. tmpak2llvmy_mondo_relaxed.owl CMH26|cardiomyopathy, familial hypertrophic, 26|cardiomyopathy familial hypertrophic 26|cardiomyopathy, familial hypertrophic, type 26|hypertrophic cardiomyopathy caused by mutation in FLNC|FLNC hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 26|cardiomyopathy, familial restrictive, 5 DOID:0110327|UMLS:C4310749|OMIM:617047 owl:Class MONDO:0005045 biolink:NamedThing hypertrophic cardiomyopathy A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. tmpak2llvmy_mondo_relaxed.owl hypertrophic subaortic stenosis|hypertrophic obstructive cardiomyopathy|HCM - hypertrophic cardiomyopathy|obstructive hypertrophic cardiomyopathy|hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy MedDRA:10020871|Orphanet:217569|ICD9:425.1|SCTID:233873004|ICD9:425.11|EFO:0000538|ICD9:425.4|DOID:11984|NCIT:C34449|KEGG:05410|MESH:D002312|ICD10:I42.1|UMLS:C0007194 owl:Class MONDO:0001323 biolink:NamedThing infant gynecomastia Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. tmpak2llvmy_mondo_relaxed.owl breast engorgement in newborn|neonatal gynaecomastia ICD9:778.7|UMLS:C1449721|SCTID:34831003|DOID:11603|ICD10:P83.4 owl:Class MONDO:0001571 biolink:NamedThing gynecomastia Development of breast tissue in males. tmpak2llvmy_mondo_relaxed.owl hypertrophy of breast of male organism|male organism hypertrophy of breast DOID:12698|UMLS:C0018418|MESH:D006177|ICD10:N62|HP:0000771|NCIT:C3073|SCTID:4754008 owl:Class HP:0000608 biolink:NamedThing Macular degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. tmpak2llvmy_mondo_relaxed.owl Pigmented macular degeneration SNOMEDCT_US:422338006|UMLS:C0024437 HP:0007694|HP:0007868 human_phenotype owl:Class HP:0000546 biolink:NamedThing Retinal degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. tmpak2llvmy_mondo_relaxed.owl Retina degeneration SNOMEDCT_US:95695004|MSH:D012162|UMLS:C0035304 HP:0007632|HP:0007893|HP:0007790|HP:0007863 human_phenotype owl:Class MONDO:0001103 biolink:NamedThing giardiasis An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact. tmpak2llvmy_mondo_relaxed.owl beaver feaver|infection by Giardia lamblia|Giardiases|infections, Giardia|Giardia|Giardia infection|Lambliases|lambliasis MESH:D005873|ICD10:A07.1|UMLS:C0017536|ICD9:007.1|DOID:10718|SCTID:10679007 owl:Class MONDO:0024270 biolink:NamedThing parasitic intestinal disease Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. tmpak2llvmy_mondo_relaxed.owl intestine parasitic infection|parasitic intestinal diseases|intestinal disease, parasitic|disease, parasitic intestinal|diseases, parasitic intestinal|parasitic intestinal disease MESH:D007411|UMLS:C0021832 owl:Class GO:0002821 biolink:NamedThing positive regulation of adaptive immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. tmpak2llvmy_mondo_relaxed.owl up-regulation of adaptive immune response|up regulation of adaptive immune response|upregulation of adaptive immune response|activation of adaptive immune response|stimulation of adaptive immune response owl:Class GO:0050778 biolink:NamedThing positive regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpak2llvmy_mondo_relaxed.owl up-regulation of immune response|stimulation of immune response|upregulation of immune response|up regulation of immune response owl:Class MONDO:0003283 biolink:NamedThing epididymal neoplasm A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl epididymis tumor|neoplasm of epididymis|tumor of epididymis|epididymis neoplasm|epididymal neoplasm|neoplasm of epididymus|epididymis neoplasm (disease) ICD9:239.5|DOID:512|UMLS:C0346239|NCIT:C39958|SCTID:126902008 owl:Class NCIT:C19160 biolink:NamedThing Occupation or Discipline A grouping of occupations and fields of study. tmpak2llvmy_mondo_relaxed.owl Occupation or Discipline owl:Class NCIT:C20181 biolink:NamedThing Conceptual Entity An organizational header for concepts representing mostly abstract entities. tmpak2llvmy_mondo_relaxed.owl Conceptual Entity owl:Class UBERON:0012363 biolink:NamedThing thyroid follicle epithelium A epithelium that is part of a thyroid follicle. tmpak2llvmy_mondo_relaxed.owl thryoid epithelium|thyroid follicle epithelium|epithelium of thyroid follicle|wall of thyroid follicle owl:Class GO:0014048 biolink:NamedThing regulation of glutamate secretion Any process that modulates the frequency, rate or extent of the controlled release of glutamate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0044070 biolink:NamedThing regulation of anion transport Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017897 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency. tmpak2llvmy_mondo_relaxed.owl mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive|autosomal recessive MSMD due to a complete deficiency 2022-03-01 ICD10:D84.8|UMLS:CN203953|Orphanet:319535 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited disease susceptibility' MONDO_0020573 owl:Class MONDO:0020636 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to a complete deficiency tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090303 biolink:NamedThing positive regulation of wound healing Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061041 biolink:NamedThing regulation of wound healing Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007188 biolink:NamedThing primary basilar invagination Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction. tmpak2llvmy_mondo_relaxed.owl primary basilar impression|Bull-Nixon syndrome|basilar impression, primary MESH:C566226|Orphanet:2285|UMLS:C1862299|OMIM:109500|ICD10:Q75.8|GARD:0001037 owl:Class MONDO:0015141 biolink:NamedThing disorder of medulla oblongata A disease that involves the medulla oblongata. tmpak2llvmy_mondo_relaxed.owl medullar disease|medulla oblongata disease or disorder|disease or disorder of medulla oblongata|disorder of medulla oblongata|medulla oblongata disease|disease of medulla oblongata UMLS:CN197487|Orphanet:102000 owl:Class MONDO:0019446 biolink:NamedThing localized lichen myxedematosus Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis. tmpak2llvmy_mondo_relaxed.owl papular mucinosis Orphanet:86795|GARD:0007321|ICD10:L98.5 owl:Class MONDO:0018432 biolink:NamedThing lichen myxedematosus tmpak2llvmy_mondo_relaxed.owl lichenoid myxedema|papular mucinosis|lichen myxoedematosus ICD9:701.8|Orphanet:402007|SCTID:111197009|ICD10:L98.5 owl:Class UBERON:0010284 biolink:NamedThing lacrimal punctum A minute orifice on the summit of the papillae lacrimales, which is the commencement point of the lacrimal canaliculi. tmpak2llvmy_mondo_relaxed.owl lacrimal puncta|puncta lacrimalia|lacrimal point owl:Class UBERON:0022292 biolink:NamedThing splenic arteriole tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001980 biolink:NamedThing arteriole The smallest division of the artery located between the muscular arteries and the capillaries[GO]. tmpak2llvmy_mondo_relaxed.owl arteriola owl:Class GO:0051345 biolink:NamedThing positive regulation of hydrolase activity Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds. tmpak2llvmy_mondo_relaxed.owl hydrolase activator|stimulation of hydrolase activity|upregulation of hydrolase activity|up-regulation of hydrolase activity|up regulation of hydrolase activity|activation of hydrolase activity owl:Class GO:0043085 biolink:NamedThing positive regulation of catalytic activity Any process that activates or increases the activity of an enzyme. tmpak2llvmy_mondo_relaxed.owl stimulation of enzyme activity|up regulation of enzyme activity|positive regulation of enzyme activity|upregulation of metalloenzyme activity|up regulation of metalloenzyme activity|up-regulation of metalloenzyme activity|activation of enzyme activity|upregulation of enzyme activity|positive regulation of metalloenzyme activity|activation of metalloenzyme activity|stimulation of metalloenzyme activity|up-regulation of enzyme activity owl:Class MONDO:0019518 biolink:NamedThing Waardenburg-Shah syndrome Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease. tmpak2llvmy_mondo_relaxed.owl Shah-Waardenburg syndrome|WS4|Waardenburg-Shah syndrome|Waardenburg-Hirschsprung disease|Waardenburg syndrome type 4|Hirschsprung disease with pigmentary anomaly|Waardenburg syndrome type IV|Waardenburg-Hirschsprung syndrome UMLS:CN206330|GARD:0005524|Orphanet:897|ICD10:Q87.8|NCIT:C124842 https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 owl:Class MONDO:0021189 biolink:NamedThing intestinal motility disease A disease that has its basis in the disruption of intestinal motility. tmpak2llvmy_mondo_relaxed.owl disorder of intestinal motility owl:Class UBERON:0003278 biolink:NamedThing skeleton of lower jaw A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. tmpak2llvmy_mondo_relaxed.owl mandibles|lower jaw|lower jaw skeleton|mandible|mandibular series owl:Class MONDO:0010635 biolink:NamedThing hypogonadotropic hypogonadism 1 with or without anosmia The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism and anosmia|dysplasia olfactogenitalis of de Morsier|Kallmann syndrome 1|KMS|ANOS1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 1 with or without anosmia|KAL1|HH1|dysplasia Olfactogenitalis of De Morsier|Kallmann syndrome, type 1, X-linked|Kallmann syndrome, X-linked|hypogonadotropic hypogonadism caused by mutation in ANOS1|anosmic hypogonadism DOID:0090094|GARD:0003071|ICD10:E23.0|NCIT:C75480|OMIM:308700|UMLS:C1563719 owl:Class MONDO:0018555 biolink:NamedThing hypogonadotropic hypogonadism Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. tmpak2llvmy_mondo_relaxed.owl gonadotropic deficiency|secondary hypogonadism|normosmic congenital hypogonadotropic hypogonadism|congenital idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism with or without anosmia|hypogonadotropic hypogonadism|isolated hypogonadotropic hypogonadism|isolated congenital gonadotropin deficiency|hypogonadism, hypogonadotropic|low gonadotropins (secondary hypogonadism)|Normosmic idiopathic hypogonadotropic hypogonadism|nIHH|hypogonadotropism|central hypogonadism NCIT:C113347|Orphanet:432|ICD10:E23.0|UMLS:CN235466|ICD9:253.4|DOID:0090070|SCTID:33927004|DOID:7455|HP:0000044|OMIMPS:147950 owl:Class UBERON:0003259 biolink:NamedThing endoderm of midgut An endoderm that is part of a midgut [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl midgut endoderm owl:Class UBERON:0003352 biolink:NamedThing epithelium of midgut An epithelium that is part of a midgut. tmpak2llvmy_mondo_relaxed.owl midgut epithelial tissue|midgut epithelium|epithelial tissue of midgut owl:Class MONDO:0001890 biolink:NamedThing pulp erosion A tooth erosion, non-bacterial that involves the dental pulp. tmpak2llvmy_mondo_relaxed.owl tooth erosion, non-bacterial of dental pulp|dental pulp tooth erosion, non-bacterial DOID:14140|ICD9:521.33 owl:Class MONDO:0003394 biolink:NamedThing dental pulp disease A disease involving the dental pulp. tmpak2llvmy_mondo_relaxed.owl pulp disorder|disorder of pulp of tooth|dental pulp disease or disorder|dental pulp disorder|disorder of dental pulp|disease of dental pulp|dental pulp disease|disease or disorder of dental pulp NCIT:C34530|ICD9:522.9|DOID:5330|UMLS:C0011405|MESH:D003788|SCTID:57203004 owl:Class MONDO:0010118 biolink:NamedThing inherited threoninemia tmpak2llvmy_mondo_relaxed.owl threoninemia|hyperthreoninemia OMIM:273770 owl:Class MONDO:0021011 biolink:NamedThing hereditary progressive chorea without dementia tmpak2llvmy_mondo_relaxed.owl BHC|hereditary progressive chorea without dementia|BCH|chorea, benign hereditary OMIM:118700 owl:Class MONDO:0017161 biolink:NamedThing frontotemporal dementia with motor neuron disease Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset. tmpak2llvmy_mondo_relaxed.owl FTD-ALS|FTDALS|FTD-MND|frontotemporal dementia with amyotrophic lateral sclerosis|frontotemporal dementia with ALS OMIMPS:105550|UMLS:C3888102|Orphanet:275872|UMLS:CN239493 owl:Class MONDO:0015547 biolink:NamedThing genetic dementia Genetic dementia. tmpak2llvmy_mondo_relaxed.owl genetic dementia Orphanet:158124 owl:Class MONDO:0006077 biolink:NamedThing adrenal medullary hyperplasia A hyperplasia that involves the adrenal medulla. tmpak2llvmy_mondo_relaxed.owl adrenal medulla hyperplasia EFO:1000076|NCIT:C35838 owl:Class MONDO:0009792 biolink:NamedThing ichthyosis-oral and digital anomalies syndrome Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Clayton Smith-Donnai syndrome|unusual facies, digital abnormalities, and ichthyosis|ichthyosis tapered fingers midline groove up|oral and digital anomalies with ichthyosis MESH:C536272|OMIM:258840|UMLS:C1850268|Orphanet:2272|GARD:0002960 owl:Class MONDO:0014602 biolink:NamedThing intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1. tmpak2llvmy_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 35|mental retardation, autosomal dominant 35|intellectual disability, autosomal dominant 35|intellectual disability, autosomal dominant type 35|autosomal dominant intellectual disability 35|MRD35|mental retardation, autosomal dominant type 35|autosomal dominant mental retardation 35 OMIM:616355|UMLS:C4225354|DOID:0070065|Orphanet:457279 owl:Class ENVO:01001002 biolink:NamedThing animal-associated environment An environmental system determined by an animal. tmpak2llvmy_mondo_relaxed.owl animal environment|Metazoan-associated environment owl:Class ENVO:01001000 biolink:NamedThing environmental system determined by an organism An environmental system which is determined by a living organism. tmpak2llvmy_mondo_relaxed.owl host-associated environment owl:Class MONDO:0017456 biolink:NamedThing central polydactyly of fingers tmpak2llvmy_mondo_relaxed.owl central polydactyly of hand|central polydactyly|mesoaxial polydactyly|mirror hand|mesoaxial polydactyly of fingers SCTID:205130008|GARD:0012769|ICD10:Q69.0|Orphanet:295004 owl:Class MONDO:0011348 biolink:NamedThing non-syndromic polydactyly A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. tmpak2llvmy_mondo_relaxed.owl supernumerary digits|Extra digits|isolated polydactyly (disease)|nonsyndromic polydactyly|isolated polydactyly|nonsyndromic polydactyly (disease)|polydactylia ICD10:Q69.9|GARD:0004410|ICD10:Q69.2|ICD10:Q69.1|ICD10:Q69.0|Orphanet:2913|MedDRA:10036063 Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy owl:Class MONDO:0018575 biolink:NamedThing microcephalic primordial dwarfism-insulin resistance syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN237592|Orphanet:436182|ICD10:Q87.1 owl:Class MONDO:0019852 biolink:NamedThing inherited primary ovarian failure An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary primary ovarian failure|inherited premature ovarian failure|non-acquired premature ovarian failure OMIMPS:311360|Orphanet:95710|ICD10:E28.3 owl:Class MONDO:0007780 biolink:NamedThing hypertelorism, Teebi type Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes. tmpak2llvmy_mondo_relaxed.owl Teebi syndrome|craniofrontonasal dysplasia, Teebi type|Brachycephalofrontonasal dysplasia|hypertelorism, Teebi type|Teebi hypertelorism syndrome Orphanet:1519|ICD10:Q87.0|OMIM:145420|UMLS:C0796179|GARD:0000957|UMLS:CN199596|SCTID:724284005 owl:Class MONDO:0016643 biolink:NamedThing frontonasal dysplasia A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement. tmpak2llvmy_mondo_relaxed.owl median cleft syndrome|FND1|frontonasal dysplasia 1|median cleft face syndrome SCTID:86610004|MESH:C538065|GARD:0002392|ICD10:Q75.8|OMIMPS:136760|UMLS:C1876203|Orphanet:250 owl:Class UBERON:0003055 biolink:NamedThing periderm A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. tmpak2llvmy_mondo_relaxed.owl epidermis outer layer|epidermis epithelial layer|epitrichium|periderm|EVL|skin periderm owl:Class UBERON:0010371 biolink:NamedThing ecto-epithelium Epithelium composed of cells that develops from the ectoderm[FMA,modified]. tmpak2llvmy_mondo_relaxed.owl ectoderm-derived epithelium owl:Class UBERON:0008196 biolink:NamedThing muscle of pectoral girdle Any muscle organ that is part of a pectoral girdle region. tmpak2llvmy_mondo_relaxed.owl pectoral girdle muscle|muscle of shoulder girdle owl:Class CHEBI:28829 biolink:NamedThing aminophenol A substituted aniline carrying a hydroxy substituent. tmpak2llvmy_mondo_relaxed.owl hydroxyaniline|aminobenzenol|aminophenol owl:Class CHEBI:48975 biolink:NamedThing substituted aniline tmpak2llvmy_mondo_relaxed.owl substituted anilines owl:Class GO:1904690 biolink:NamedThing positive regulation of cytoplasmic translational initiation Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation. tmpak2llvmy_mondo_relaxed.owl upregulation of cytoplasmic translational initiation|activation of cytoplasmic translational initiation|up regulation of cytoplasmic translational initiation|up-regulation of cytoplasmic translational initiation owl:Class GO:1904688 biolink:NamedThing regulation of cytoplasmic translational initiation Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000490 biolink:NamedThing mesothelial cell of peritoneum A mesothelial cell that is part of the peritoneum. tmpak2llvmy_mondo_relaxed.owl peritoneal mesothelial cell FMA:86736 cell owl:Class CL:0000077 biolink:NamedThing mesothelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. tmpak2llvmy_mondo_relaxed.owl mesotheliocyte FMA:66773 cell owl:Class MONDO:0011171 biolink:NamedThing odonto-tricho-ungual-digito-palmar syndrome Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl ODONTOTRICHOUNGUAL-digital-palmar syndrome|Otudp syndrome|OTUDP syndrome|odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type Orphanet:69082|MESH:C566598|SCTID:722063009|OMIM:601957|UMLS:C1865998 owl:Class MONDO:0012335 biolink:NamedThing obesity due to pro-opiomelanocortin deficiency Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin. tmpak2llvmy_mondo_relaxed.owl obesity, early-onset, with adrenal insufficiency and RED hair|POMC deficiency|obesity, early-onset, adrenal insufficiency, and Red hair|OBAIRH|PROOPIOMELANOCORTIN deficiency|obesity, early-onset, with adrenal insufficiency and Red hair UMLS:C1857854|MESH:C565726|GARD:0010823|SCTID:702949005|ICD9:255.5|OMIM:609734|Orphanet:71526|ICD10:E66.8 owl:Class MONDO:0015825 biolink:NamedThing obesity due to congenital leptin resistance tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:179490|ICD10:E66.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: genetic non-syndromic obesity' MONDO_0020075 owl:Class MONDO:0005687 biolink:NamedThing Caliciviridae infectious disease Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. tmpak2llvmy_mondo_relaxed.owl infections, Caliciviridae|infections, Calicivirus|infection, Caliciviridae|Caliciviridae infection|Calicivirus infection|infection, Calicivirus|Calicivirus infections EFO:0007189|MESH:D017250 owl:Class MONDO:0100329 biolink:NamedThing primary viral infectious disease The initial viral infectious disase that causes illness. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2950 owl:Class MONDO:0100156 biolink:NamedThing Imerslund-Grasbeck syndrome type 1 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. tmpak2llvmy_mondo_relaxed.owl Mga1|MGA1|enterocyte cobalamin malabsorption|megaloblastic anemia, Finnish type|Imerslund-Grasbeck syndrome type 1|MGA-1|megaloblastic anemia, 1|pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|megaloblastic Anemia type 1|enterocyte intrinsic factor receptor, defect of OMIM:261100|NCIT:C131677 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005851 biolink:NamedThing Miller Fisher syndrome An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. tmpak2llvmy_mondo_relaxed.owl cranial variant of Guillain-Barre syndrome|Miller-Fisher syndrome|Miller-Fisher variant of Guillain-Barre syndrome|syndrome, Fisher|ophthalmoplegia, ataxia and areflexia syndrome|Fisher syndrome|Fisher's syndrome|cranial variant of Guillain-Barré syndrome|Miller Fisher variant of Guillain Barre syndrome|cranial variant of GBS|Guillain-Barre syndrome, Miller Fisher variant|syndrome, Miller-Fisher|Guillain Barre syndrome, Miller Fisher variant|syndrome, Miller Fisher EFO:0007371|DOID:12889|UMLS:C0393799|MedDRA:10049567|ICD10:G61.0|NCIT:C116958|MESH:D019846|GARD:0003668|Orphanet:98919|SCTID:1767005 owl:Class MONDO:0016494 biolink:NamedThing regional variant of Guillain-Barre syndrome tmpak2llvmy_mondo_relaxed.owl regional variant of GBS|regional variant of Guillain-Barré syndrome Orphanet:231416|UMLS:CN201496|ICD10:G61.0 owl:Class ENVO:09000008 biolink:NamedThing concentration of carbon atom in soil The concentration of a carbon atom when measured in soil. tmpak2llvmy_mondo_relaxed.owl soil carbon atom concentration owl:Class PATO:0000033 biolink:NamedThing concentration of A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. tmpak2llvmy_mondo_relaxed.owl concentration owl:Class CHEBI:33720 biolink:NamedThing carbohydrate acid tmpak2llvmy_mondo_relaxed.owl carbohydrate acids|carbohydrate acid owl:Class HP:0004444 biolink:NamedThing Spherocytosis The presence of erythrocytes that are sphere-shaped. tmpak2llvmy_mondo_relaxed.owl UMLS:C0553720|SNOMEDCT_US:17235000 Erythrocytes are normally biconcave rather than spherical. peter 2008-03-18T10:05:00Z HP:0004816 human_phenotype owl:Class HP:0004447 biolink:NamedThing Poikilocytosis The presence of abnormally shaped erythrocytes. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:165479004|UMLS:C0221281 General description for abnormally shaped erythrocytes. peter 2008-03-18T10:06:00Z human_phenotype owl:Class CL:0001054 biolink:NamedThing CD14-positive monocyte A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20. tmpak2llvmy_mondo_relaxed.owl monocyte This cell type is compatible with the HIPC Lyoplate markers for 'monocyte'. Note that while CD14 is considered a reliable marker for human monocytes, it is only expressed on approximately 85% of mouse monocytes. cell owl:Class CL:0000576 biolink:NamedThing monocyte Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. tmpak2llvmy_mondo_relaxed.owl BTO:0000876|FMA:62864|CALOHA:TS-0638 Morphology: Mononuclear cell, diameter, 14 to 20 _M, N/C ratio 2:1-1:1. Nucleus may appear in variety of shapes: round, kidney, lobulated, or convoluted. Fine azurophilic granules present; markers: CD11b (shared with other myeloid cells), human: CD14, mouse: F4/80-mid,GR1-low; location: Blood, but can be recruited into tissues; role or process: immune & tissue remodelling; lineage: hematopoietic, myeloid. cell owl:Class MONDO:0012735 biolink:NamedThing Temple-Baraitser syndrome Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. tmpak2llvmy_mondo_relaxed.owl severe mental retardation and absent nails of hallux and pollex|mental retardation, severe, and absent nails of hallux and pollex|intellectual disability, severe, and absent nails of hallux and pollex|severe intellectual disability and absent nails of hallux and pollex|severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|TMBTS|Temple-Baraitser syndrome EFO:0009062|UMLS:C2678486|ICD10:Q87.2|GARD:0009441|MESH:C567516|OMIM:611816|Orphanet:420561 owl:Class MONDO:0011586 biolink:NamedThing otosclerosis 2 tmpak2llvmy_mondo_relaxed.owl otosclerosis 2|OTSC2 UMLS:C1854022|OMIM:605727|MESH:C565302 owl:Class MONDO:0005376 biolink:NamedThing membranous glomerulonephritis A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. tmpak2llvmy_mondo_relaxed.owl membranous nephropathy|membranous Glomerulonephropathy ICD9:582.1|ICD10:N03.2|MESH:D015433|UMLS:C0017665|DOID:10976|ICD9:583.1|NCIT:C34645|EFO:0004254|SCTID:77182004 owl:Class MONDO:0002462 biolink:NamedThing glomerulonephritis A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. tmpak2llvmy_mondo_relaxed.owl nephritis of renal glomerulus|glomerulonephritis (disease)|renal glomerulus nephritis|glomerulonephritis|bright's disease|glomerular nephritis glomerulonephritis (disease) DOID:2921|ICD9:583.9|ICD10:N05|ICD10:N08|MESH:D005921|GARD:0006516|NCIT:C26784|HP:0000099|UMLS:C0017658|SCTID:36171008 owl:Class UBERON:0015214 biolink:NamedThing arcuate ligament A ligament that is part of a diaphragm. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005181 biolink:NamedThing thoracic segment organ An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. tmpak2llvmy_mondo_relaxed.owl upper body organ owl:Class HsapDv:0000115 biolink:NamedThing 21-year-old human stage Young adult stage that refers to an adult who is over 21 and under 22. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005738 biolink:NamedThing echinococcosis A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock. tmpak2llvmy_mondo_relaxed.owl echinococciasis|Echinococcus infectious disease|hepatic echinococcosis|echinococcosis, unspecified, of liver|Echinococcus disease or disorder|Echinococcus caused disease or disorder|echinococcosis of liver|liver echinococcus|echinococcus disease|echinococcal disease|hydatidosis|pulmonary echinococcosis|echinococcosis|hydatid disease DOID:1496|ICD10:B67.90|ICD9:122|ICD10:B67|MESH:D004443|EFO:0007245|ICD9:122.9|NCIT:C84682|SCTID:74942003|UMLS:C0013502 owl:Class MONDO:0019587 biolink:NamedThing autosomal dominant nonsyndromic deafness Autosomal dominant form of nonsyndromic deafness. tmpak2llvmy_mondo_relaxed.owl autosomal dominant isolated neurosensory deafness type DFNA|autosomal dominant non-syndromic neurosensory deafness type DFNA|autosomal dominant nonsyndromic genetic deafness|autosomal dominant nonsyndromic hearing impairment|autosomal dominant isolated sensorineural hearing loss type DFNA|autosomal dominant non-syndromic sensorineural deafness type DFNA|autosomal dominant non-syndromic sensorineural hearing loss type DFNA|autosomal dominant isolated neurosensory hearing loss type DFNA|autosomal dominant deafness|nonsyndromic deafness, autosomal dominant|autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic hearing loss and deafness|nonsyndromic genetic deafness, autosomal dominant|autosomal dominant non-syndromic neurosensory hearing loss type DFNA|autosomal dominant isolated sensorineural deafness type DFNA|autosomal dominant isolated deafness|deafness, autosomal dominant Orphanet:90635|DOID:0050564|UMLS:CN043649|ICD10:H90.3|OMIMPS:124900 owl:Class MONDO:0010406 biolink:NamedThing chromosome Xp11.22 duplication syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 31|chromosome Xp11.22 duplication syndrome|intellectual disability, X-linked 17|intellectual disability, X-linked 31|mental retardation, X-linked 17 OMIM:300705 owl:Class MONDO:0018149 biolink:NamedThing GM1 gangliosidosis GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. tmpak2llvmy_mondo_relaxed.owl Beta-galactosidase deficiency|Beta-galactosidase-1 deficiency|GM>1< gangliosidosis|GLB1 deficiency|beta-galactosidase deficiency|GLB 1 deficiency|Landing syndrome|Landing disease|Beta-galactosidosis|gangliosidosis GM1|deficiency of beta-galactosidase|Beta galactosidase 1 deficiency DOID:3322|UMLS:C0085131|GARD:0010891|MESH:D016537|NCIT:C84739|SCTID:124465002|Orphanet:354|ICD10:E75.19|ICD9:277.6|ICD10:E75.1 owl:Class UBERON:0005255 biolink:NamedThing pedal digit mesenchyme Mesenchyme that is part of a developing toe [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl finger ray mesenchyme|pedal digital ray mesenchyme|toe mesenchyme|foot digit mesenchyme|hind limb digit mesenchyme owl:Class UBERON:0010702 biolink:NamedThing digit mesenchyme Mesenchyme of the digit region. tmpak2llvmy_mondo_relaxed.owl digital ray owl:Class MONDO:0016340 biolink:NamedThing familial restrictive cardiomyopathy An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary restrictive cardiomyopathy ICD9:425.4|Orphanet:217635|SCTID:233878008|OMIMPS:115210 owl:Class MONDO:0005217 biolink:NamedThing familial cardiomyopathy An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary cardiomyopathy SCTID:35728003|UMLS:C0264789|EFO:0002945|ICD9:425.4 owl:Class HP:0030956 biolink:NamedThing Abnormality of cardiovascular system electrophysiology An anomaly of the electrical conduction physiology of the heart. tmpak2llvmy_mondo_relaxed.owl 2017-03-17 17:47:04+00:00 robinp human_phenotype owl:Class HP:0011025 biolink:NamedThing Abnormal cardiovascular system physiology Abnormal functionality of the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl Abnormality of cardiovascular system physiology UMLS:C4023587 peter 2011-03-03T10:23:19Z human_phenotype owl:Class GO:1903011 biolink:NamedThing negative regulation of bone development Any process that stops, prevents or reduces the frequency, rate or extent of bone development. tmpak2llvmy_mondo_relaxed.owl down regulation of bone development|down-regulation of bone development|downregulation of bone development|inhibition of bone development owl:Class MONDO:0008408 biolink:NamedThing scapuloperoneal spinal muscular atrophy, autosomal dominant tmpak2llvmy_mondo_relaxed.owl amyotrophy, neurogenic scapuloperoneal, New England type|scapuloperoneal neuronopathy|scapuloperoneal spinal muscular atrophy|neurogenic scapuloperoneal amyotrophy, New England type|SPSMA EFO:1001992|GARD:0010314|OMIM:181405|SCTID:230248006|Orphanet:431255|DOID:0111552|ICD10:G12.1|ICD9:335.19 owl:Class MONDO:0001516 biolink:NamedThing spinal muscular atrophy Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl ICD10:G12.9|UMLS:C0026847|SCTID:5262007|DOID:12377|ICD9:335.1|EFO:0008525|GARD:0007674|MESH:D009134|NCIT:C85075|ICD9:335.10|ICD9:335.19 https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy owl:Class MONDO:0022760 biolink:NamedThing chromosome 22q deletion tmpak2llvmy_mondo_relaxed.owl 22q monosomy|partial monosomy 22q|monosomy 22q|22q deletion|deletion 22q GARD:0008668 https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion owl:Class MONDO:0005999 biolink:NamedThing tuberculous empyema An empyema resulting from infection by Mycobacterium tuberculosis. tmpak2llvmy_mondo_relaxed.owl tuberculous empyema (& pleural) NCIT:C34575|UMLS:C0014014|EFO:0007528|SCTID:14527007|DOID:14305|MESH:D004654 owl:Class MONDO:0018667 biolink:NamedThing pleural empyema The presence of pus in the thoracic cavity, between the visceral and parietal pleura. tmpak2llvmy_mondo_relaxed.owl abscess of thorax|thorax abscess|pleural empyema|pyothorax|purulent pleuritis|empyema of pleura|pleural empyema (disease)|abscess of pleural cavity|empyema|purulent pleurisy pleural empyema (disease) ICD10:J86.9|Orphanet:449266|ICD10:J86|MESH:D016724|HP:0011919|SCTID:405950009|DOID:3798 owl:Class MONDO:0010879 biolink:NamedThing CODAS syndrome Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. tmpak2llvmy_mondo_relaxed.owl cerebral, ocular, dental, auricular, and skeletal syndrome|cerebro-oculo-dento-auriculo-skeletal syndrome|CODAS syndrome|cerebrooculodentoauriculoskeletal syndrome|cerebral, ocular, dental, auricular, and skeletal anomalies syndrome ICD10:Q87.8|Orphanet:1458|SCTID:717772000|NCIT:C126744|GARD:0001418|UMLS:C1838180|MESH:C536434|DOID:0111274|OMIM:600373 https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome owl:Class MONDO:0006366 biolink:NamedThing Peutz-Jeghers polyp of the stomach A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium. tmpak2llvmy_mondo_relaxed.owl Gastric Peutz-Jeghers polyp NCIT:C36205|UMLS:C1335398|EFO:1000471 owl:Class MONDO:0006224 biolink:NamedThing gastric hamartomatous polyp A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations. tmpak2llvmy_mondo_relaxed.owl stomach hamartoma (disease)|hamartoma of stomach|hamartoma of the stomach|gastric hamartomatous polyp NCIT:C4373|UMLS:C0341225|SCTID:235685007|EFO:1000271 owl:Class UBERON:0003515 biolink:NamedThing forelimb blood vessel A blood vessel that is part of a forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of fore limb|blood vessel of forelimb|fore limb blood vessel|wing blood vessel|blood vessel of upper extremity|anteriormost limb blood vessel|blood vessel of anteriormost limb owl:Class UBERON:0003514 biolink:NamedThing limb blood vessel A blood vessel that is part of a limb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of limb owl:Class MONDO:0003035 biolink:NamedThing ovarian angiosarcoma A malignant vascular neoplasm arising from the ovary. tmpak2llvmy_mondo_relaxed.owl hemangiosarcoma of the ovary|angiosarcoma (disease) of ovary|hemangiosarcoma of ovary|ovary angiosarcoma (disease)|angiosarcoma of ovary|ovarian hemangiosarcoma|angiosarcoma of the ovary DOID:4527|NCIT:C5232|UMLS:C1335152 owl:Class MONDO:0016982 biolink:NamedThing angiosarcoma A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. tmpak2llvmy_mondo_relaxed.owl angiosarcoma|hemangiosarcoma, malignant|hemangiosarcoma|vascular sarcoma|malignant hemangioendothelioma|blood vessel sarcoma|angiosarcoma (disease)|malignant angioendothelioma|sarcoma of blood vessel angiosarcoma (disease) DOID:0001816|SCTID:403977003|ICD10:C49.9|MESH:D006394|MedDRA:10002476|HP:0200058|NCIT:C3088|EFO:0003968|UMLS:C0018923|ICDO:9120/3|ONCOTREE:ANGS|ICD9:171.9|Orphanet:263413|EFO:0003967 owl:Class MONDO:0008140 biolink:NamedThing ossified ear cartilages tmpak2llvmy_mondo_relaxed.owl ossified ear cartilages OMIM:165670|MESH:C563488|UMLS:C1833791 owl:Class MONDO:0014427 biolink:NamedThing cone-rod dystrophy 20 Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy caused by mutation in POC1B|cone-rod dystrophy type 20|POC1B cone-rod dystrophy|cone-rod dystrophy 20|CORD20 UMLS:C4014856|DOID:0111026|OMIM:615973 owl:Class MONDO:0015993 biolink:NamedThing cone-rod dystrophy Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. tmpak2llvmy_mondo_relaxed.owl cone rod dystrophy|cone-rod retinal dystrophy ICD10:H35.5|Orphanet:1872|GARD:0010790|DOID:0050572|OMIMPS:120970 owl:Class MONDO:0054866 biolink:NamedThing sudden arrhythmia death syndrome tmpak2llvmy_mondo_relaxed.owl sudden arrhythmic death syndrome|SADS|sudden cardiac death due to cardiac arrhythmia UMLS:C2721586|GARD:0009434|SCTID:735686002 owl:Class MONDO:0007264 biolink:NamedThing sudden cardiac arrest An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms. tmpak2llvmy_mondo_relaxed.owl cardiac conduction Disorder|disorder of cardiac conduction|heart conduction disorder|cardiac conduction defect|familial sudden death|conduction disorder|sudden cardiac death OMIM:115080|SCTID:95281009|EFO:0004278|NCIT:C78245 Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. owl:Class MONDO:0018852 biolink:NamedThing achromatopsia Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. tmpak2llvmy_mondo_relaxed.owl Rod monochromacy|achromatopsia|complete or incomplete color blindness|ACHM|total color blindness|monochromatism|Rod monochromatism|Pingelapese blindness MedDRA:10000454|NCIT:C84528|Orphanet:49382|DOID:13911|UMLS:C0152200|ICD10:H53.5|ICD9:368.54|SCTID:102450007|ICD10:H53.51 Editor note: we include incomplete forms here, such as BCM owl:Class MONDO:0020208 biolink:NamedThing syndromic myopia A myopia (disease) that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with myopia (disease)|syndromic myopia (disease) Orphanet:98620|UMLS:CN227818 owl:Class MONDO:0002719 biolink:NamedThing conus medullaris neoplasm A neoplasm (disease) that involves the conus medullaris. tmpak2llvmy_mondo_relaxed.owl conus medullaris neoplasm (disease)|tumor of conus medullaris|conus medullaris neoplasm|neoplasm of the conus medullaris|conus medullaris tumor|tumor of the conus medullaris|neoplasm of conus medullaris DOID:3641|NCIT:C5443|UMLS:C1333153 owl:Class MONDO:0021234 biolink:NamedThing spinal cord neoplasm A neoplasm (disease) that involves the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord neoplasm (disease)|tumor of the spinal cord|tumor of spinal cord|spinal cord tumor|neoplasm of the spinal cord|neoplasm of spinal cord NCIT:C3381|UMLS:C0037930 owl:Class GO:0099577 biolink:NamedThing regulation of translation at presynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the presynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099547 biolink:NamedThing regulation of translation at synapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the synapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013966 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 4 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene. tmpak2llvmy_mondo_relaxed.owl ventricular tachycardia, catecholaminergic polymorphic, 4|catecholaminergic polymorphic ventricular tachycardia type 4|CPVT4|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1|ventricular tachycardia, catecholaminergic polymorphic, type 4|CVPT4|CALM1 catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia 4 OMIM:614916|UMLS:C3554047|DOID:0060678|ICD10:I47.2 owl:Class MONDO:0017990 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. tmpak2llvmy_mondo_relaxed.owl CPVT|multifocal ventricular premature beats|polymorphic catecholergic ventricular tachycardia|bidirectional tachycardia induced by catecholamine|syncopal paroxysmal tachycardia|catecholamine-induced polymorphic ventricular tachycardia|malignant paroxysmal ventricular tachycardia|familial polymorphic ventricular tachycardia|double tachycardia induced by catecholamines|stress-induced polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic MESH:C536334|GARD:0004421|SCTID:419671004|UMLS:C1631597|OMIMPS:604772|ICD10:I47.2|Orphanet:3286|DOID:0060674 owl:Class MONDO:0020265 biolink:NamedThing mitochondrial disease with eye involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98695|UMLS:CN207076 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class HP:0012205 biolink:NamedThing Globozoospermia Any structural anomaly of the acrosome resulting in a round sperm head. tmpak2llvmy_mondo_relaxed.owl MSH:D000072660|SNOMEDCT_US:236818008|UMLS:C0403825 peter 2013-03-12T12:21:08Z human_phenotype owl:Class HP:0012865 biolink:NamedThing Abnormal sperm head morphology A structural abnormality of the sperm head. tmpak2llvmy_mondo_relaxed.owl Sperm head anomaly UMLS:C4022702 hecht 2014-06-09T10:48:21Z human_phenotype owl:Class GO:0032217 biolink:NamedThing riboflavin transmembrane transporter activity Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. tmpak2llvmy_mondo_relaxed.owl riboflavin transporter activity owl:Class GO:0090482 biolink:NamedThing vitamin transmembrane transporter activity Enables the transfer of a vitamin from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl vitamin or cofactor transporter activity|vitamin transporter activity owl:Class HGNC:28956 biolink:NamedThing GPD1L tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2001251 biolink:NamedThing negative regulation of chromosome organization Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization. tmpak2llvmy_mondo_relaxed.owl negative regulation of chromosome organisation|negative regulation of chromosome organization and biogenesis|negative regulation of nuclear genome maintenance|negative regulation of maintenance of genome integrity owl:Class GO:2001025 biolink:NamedThing positive regulation of response to drug Any process that activates or increases the frequency, rate or extent of response to drug. tmpak2llvmy_mondo_relaxed.owl positive regulation of drug susceptibility/resistance|positive regulation of drug resistance owl:Class GO:2001023 biolink:NamedThing regulation of response to drug Any process that modulates the frequency, rate or extent of response to drug. tmpak2llvmy_mondo_relaxed.owl regulation of drug susceptibility/resistance|regulation of drug resistance owl:Class MONDO:0005077 biolink:NamedThing pertussis A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. tmpak2llvmy_mondo_relaxed.owl Bordetella pertussis infectious disease|WC - whooping cough|Bordetella pertussis disease or disorder|infection due to Bordetella pertussis|Bordetella pertussis infection|whooping cough|Bordetella infection|pertussis|Bordetella pertussis caused disease or disorder ICD10:A37.8|MedDRA:10034738|ICD10:A37.9|SCTID:27836007|UMLS:C0043167|ICD10:A37.0|ICD9:033.0|ICD9:033|ICD9:033.9|GARD:0008692|EFO:0000650|NCIT:C85231|ICD10:A37.1|KEGG:05133|DOID:1116|MESH:D014917|MedDRA:10047974|Orphanet:1489 https://rarediseases.info.nih.gov/diseases/8692/whooping-cough owl:Class MONDO:0006347 biolink:NamedThing pancreatic large cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells. tmpak2llvmy_mondo_relaxed.owl large cell neuroendocrine carcinoma of pancreas|pancreatic large cell NEC|pancreatic large cell NEC G3|pancreas large cell neuroendocrine carcinoma|pancreatic large cell neuroendocrine carcinoma EFO:1000442|UMLS:C2987239|NCIT:C95582 owl:Class MONDO:0005192 biolink:NamedThing exocrine pancreatic carcinoma A carcinoma that arises from epithelial cells of the exocrine pancreas tmpak2llvmy_mondo_relaxed.owl pancreatic carcinoma|cancer of pancreas|pancreas cancer|carcinoma of exocrine pancreas|pancreatic cancer (not islets)|carcinoma of the pancreas|pancreas carcinoma|cancer of the pancreas|exocrine pancreas carcinoma|carcinoma of pancreas|pancreatic cancer|exocrine cancer|pancreatic carcinoma, familial DOID:4905|UMLS:C0235974|NCIT:C3850|EFO:0002618|SCTID:372142002 owl:Class MONDO:0020528 biolink:NamedThing ACTH-dependent Cushing syndrome Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). tmpak2llvmy_mondo_relaxed.owl corticotropin-dependent Cushing syndrome|ACTH hypersecretion, pituitary|pituitary-dependent Cushing disease|pituitary Cushing diseases|pituitary Cushing syndrome|pituitary Cushing disease|overproduction of ACTH|adrenocorticotropic hormone-dependent Cushing syndrome|adrenocorticotropic hormone, inappropriate secretion|ACTH-dependent CS|pituitary-dependent Cushing's disease EFO:1001110|Orphanet:99892|DOID:3946|MESH:D047748|SCTID:237734007|SCTID:190502001|UMLS:C0342442|MedDRA:10035109|ICD10:E24.0 owl:Class MONDO:0018912 biolink:NamedThing Cushing syndrome Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. tmpak2llvmy_mondo_relaxed.owl nodular primary adrenocortical dysplasia|suprarenogenic syndrome|Cushing's syndrome|hyperadrenocorticism|pituitary basophilism|hypercortisolism|ectopic adrenocorticotropic hormone syndrome|adrenal hyperfunction resulting from pituitary ACTH excess|cortisol Excess|Cushing syndrome ICD10:E24.0|NCIT:C2969|GARD:0006224|ICD10:E24.8|UMLS:C0010481|ICD9:255.0|MESH:D003480|ICD10:E24.2|Orphanet:553|ICD10:E24|MedDRA:10020562|MedDRA:10011652|ICD10:E24.3|ICD10:E24.9|MedDRA:10020610|ICD10:E24.1|EFO:0003099|ICD10:E24.4|MedDRA:10020564 Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form owl:Class MONDO:0004352 biolink:NamedThing adult brain ependymoma An ependymoma of the brain occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult brain ependymoma|brain ependymoma DOID:7750|UMLS:C1332186|NCIT:C9372 owl:Class MONDO:0004245 biolink:NamedThing ependymal tumor of brain A tumor arising from the ependymal lining of the ventricles. tmpak2llvmy_mondo_relaxed.owl ependymoma of brain|ependymal tumor of brain|brain ependymal tumor|brain ependymoma UMLS:C0238029|SCTID:254939008|NCIT:C3861|DOID:7497 owl:Class MONDO:0043475 biolink:NamedThing Adams-Stokes syndrome An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery. tmpak2llvmy_mondo_relaxed.owl syndrome, Stokes-Adams|Adam-Stokes attacks|syndrome, Adams-Stokes|Stokes-Adams syndrome|Stokes-Adams-morgagni syndrome|Adams Stokes syndrome|Stokes Adams attacks|Stokes-Adams attacks|Adam Stokes attacks|attacks, Stokes-Adams|attacks, Adam-Stokes|Stokes Adams syndrome EFO:1001259|SCTID:46935006|NCIT:C79765|MESH:D000219|UMLS:C0001396 owl:Class MONDO:0008848 biolink:NamedThing atrioventricular dissociation Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. tmpak2llvmy_mondo_relaxed.owl A-V dissociation|atrioventricular dissociation|atrioventricular dissociation (disease) atrioventricular dissociation (disease) ICD9:426.89|OMIM:209600|SCTID:50799005|HP:0011709|MESH:D006327 owl:Class GO:0006497 biolink:NamedThing protein lipidation The covalent attachment of lipid groups to an amino acid in a protein. tmpak2llvmy_mondo_relaxed.owl protein amino acid lipidation|lipid:protein modification owl:Class GO:0006464 biolink:NamedThing cellular protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). tmpak2llvmy_mondo_relaxed.owl protein modification process|protein tagging activity|process resulting in protein modification owl:Class MONDO:0008896 biolink:NamedThing campomelia, Cumming type Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. tmpak2llvmy_mondo_relaxed.owl Cumming syndrome|cervical lymphocele with bowed long bones|campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys|campomelia Cumming type|campomelia, Cumming type MESH:C537966|GARD:0001061|UMLS:C1859371|Orphanet:1318|SCTID:720599002|OMIM:211890|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type owl:Class MONDO:0021518 biolink:NamedThing benign neoplasm of hard palate A benign neoplasm that involves the hard palate. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the hard palate|benign tumor of hard palate|hard palate benign neoplasm|benign hard palate tumor|benign hard palate neoplasm|benign tumor of the hard palate SCTID:92129006|NCIT:C4403|ICD9:210.4|UMLS:C0345552 owl:Class MONDO:0021445 biolink:NamedThing benign neoplasm of oral cavity A benign neoplasm that involves the oral cavity. tmpak2llvmy_mondo_relaxed.owl benign tumor of oral cavity|benign tumor of the mouth|benign neoplasm of the oral cavity|benign oral cavity neoplasm|benign oral cavity tumor|benign tumor of the oral cavity|oral cavity benign neoplasm|benign tumor of mouth|benign neoplasm of the mouth|benign mouth tumor|benign mouth neoplasm|benign neoplasm of mouth UMLS:C0347197|NCIT:C7607|SCTID:419645003|ICD9:210.4 owl:Class MONDO:0014472 biolink:NamedThing periodic fever-infantile enterocolitis-autoinflammatory syndrome tmpak2llvmy_mondo_relaxed.owl NLRC4-related MAS|AUTOINFLAMMATION with infantile enterocolitis|NLRC4-related autoinflammatory syndrome with MAS|NLRC4-related autoinflammatory syndrome with macrophage activation syndrome|AIFEC|autoinflammation with infantile enterocolitis|NLRC4-related infantile enterocolitis-autoinflammatory syndrome|NLRC4-related macrophage activation syndrome ICD10:E85.0|UMLS:C4015067|Orphanet:436166|OMIM:616050 owl:Class MONDO:0015622 biolink:NamedThing wound myiasis tmpak2llvmy_mondo_relaxed.owl traumatic myiasis Orphanet:165955|UMLS:C0344061|SCTID:240880004|ICD9:998.89|ICD10:B87.1 owl:Class MONDO:0020568 biolink:NamedThing cutaneous myiasis tmpak2llvmy_mondo_relaxed.owl ICD10:B87.0|UMLS:C0027031|Orphanet:99983|SCTID:240877000 owl:Class MONDO:0005071 biolink:NamedThing nervous system disorder A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. tmpak2llvmy_mondo_relaxed.owl disease of nervous system|neurological disorder|disease or disorder of nervous system|neurologic disease|neurological disease|neurologic disorder|nervous system disorder|nervous system disease|disorder of nervous system|nervous system disease or disorder ICD10:G00-G99|ICD10:G00.G99|ICD10:G98|DOID:863|NCIT:C26835|Wikipedia:Nervous_system_disease|SCTID:118940003|EFO:0000618|MESH:D009422|ICD10:G98.8|UMLS:C0027765|ICD9:349.9|ICD9:349.89 owl:Class HGNC:177 biolink:NamedThing ACY1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008291 biolink:NamedThing porokeratosis plantaris palmaris et disseminata Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. tmpak2llvmy_mondo_relaxed.owl porokeratosis 2, palmar, plantar, and disseminated type|porokeratosis palmaris Et plantaris disseminata|porokeratosis plantaris palmaris et disseminata|porokeratosis, palmar, plantar, and disseminated, 1|porokeratosis, palmar, plantar, and disseminated|POROK2|palmar, plantar and disseminated porokeratosis Orphanet:737|OMIM:175850|ICD10:Q82.8|SCTID:718218005 owl:Class MONDO:0016518 biolink:NamedThing isolated punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated punctate PPK|isolated punctate palmoplantar hyperkeratosis|nonsyndromic punctate palmoplantar keratoderma ICD10:Q82.8|Orphanet:2338 owl:Class MONDO:0015496 biolink:NamedThing macroglossia The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) tmpak2llvmy_mondo_relaxed.owl enlarged tongue|giant tongue Orphanet:156207|MESH:D008260|MedDRA:10025391|UMLS:C0024421|ICD10:Q38.2|GARD:0003342 owl:Class MONDO:0019755 biolink:NamedThing developmental defect during embryogenesis A disease that has its basis in the disruption of embryonic morphogenesis. tmpak2llvmy_mondo_relaxed.owl disorder of embryonic morphogenesis|rare developmental defect during embryogenesis|malformation syndrome|congenital malformation syndrome|developmental defect during embryogenesis|embryonic morphogenesis disease ICD9:759.7|UMLS:C1302790|SCTID:400038003|NCIT:C99267|Orphanet:93890|UMLS:CN206687 owl:Class MONDO:0060582 biolink:NamedThing auditory neuropathy-optic atrophy syndrome tmpak2llvmy_mondo_relaxed.owl ANOA|auditory neuropathy and optic atrophy Orphanet:542585|OMIM:617717|UMLS:C4521678 owl:Class MONDO:0005814 biolink:NamedThing intestinal cancer A malignant neoplasm involving the intestine tmpak2llvmy_mondo_relaxed.owl intestinal tumors, malignant|intestine cancer|malignant intestine tumor|malignant intestinal tumor|malignant neoplasm of intestine|malignant intestinal tumors|intestinal cancer|malignant tumor of intestine|malignant intestine neoplasm|bowel cancer|malignant intestinal neoplasm|malignant tumor of the intestine|malignant neoplasm of the intestine|cancer of intestine|malignant intestinal neoplasms|cancer of the intestine|intestinal neoplasms, malignant SCTID:363508008|ICD10:C26.0|UMLS:C0346627|ICD9:159.0|NCIT:C4572|MESH:D007414|EFO:0007330|DOID:10155 owl:Class MONDO:0021118 biolink:NamedThing intestinal neoplasm A benign or malignant neoplasm involving the small or large intestine. tmpak2llvmy_mondo_relaxed.owl neoplasm of intestinal tract|intestinal benign neoplasm|neoplasm of intestines|intestine neoplasm (disease)|intestine neoplasm|intestine growth|intestinal neoplasms|neoplasm of intestine|intestinal tumors|tumor of intestines|intestinal tumor|neoplasm of the intestines|tumor of intestine|intestinal neoplasm|intestine tumor|bowel neoplasm|tumor of the intestines NCIT:C3141|DOID:4610|ONCOTREE:BOWEL|SCTID:126769007 owl:Class CL:0002637 biolink:NamedThing keratinized epithelial cell of the anal canal An epithelial cell of the anal canal that is keratinized. This cell type is found towards the lower, rectal end of the anal canal. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-07-08T02:08:40Z cell owl:Class CL:0009066 biolink:NamedThing stratified squamous epithelial cell of anal canal A stratified squamous epithelial cell that is part of the anal canal. tmpak2llvmy_mondo_relaxed.owl anal canal stratified squamous epithelial cell owl:Class MONDO:0008138 biolink:NamedThing syndromic orbital border hypoplasia Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. tmpak2llvmy_mondo_relaxed.owl Urrets-Zavalia syndrome|orbital margin, hypoplasia OF Orphanet:98606|SCTID:717337001|OMIM:165600|MESH:C563490|UMLS:C1833795|UMLS:C4273912 owl:Class MONDO:0020195 biolink:NamedThing excretory apparatus of the lacrimal system anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98605 owl:Class GO:0030731 biolink:NamedThing guanidinoacetate N-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine + H(+). tmpak2llvmy_mondo_relaxed.owl methionine-guanidinoacetic transmethylase activity|guanidinoacetate transmethylase activity|guanidinoacetate methyltransferase activity|GA methylpherase activity|guanidoacetate methyltransferase activity|S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase activity owl:Class GO:0008757 biolink:NamedThing S-adenosylmethionine-dependent methyltransferase activity Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate. tmpak2llvmy_mondo_relaxed.owl S-adenosyl methionine-dependent methyltransferase activity|SAM-dependent methyltransferase activity owl:Class MONDO:0002222 biolink:NamedThing urethra leiomyoma A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of urethra|urethra leiomyoma|urethral leiomyoma|leiomyoma of the urethra DOID:2142|UMLS:C1336888|NCIT:C6171 owl:Class MONDO:0004177 biolink:NamedThing benign urethral neoplasm Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. tmpak2llvmy_mondo_relaxed.owl benign urethral neoplasm|benign urethra neoplasm|benign neoplasm of the urethra|neoplasm. urethra|urethra benign neoplasm|benign urethra tumor|benign neoplasm of urethra|urethral benign neoplasm|benign tumor of urethra|benign tumor of the urethra|benign urethral tumor DOID:730|SCTID:92466006|NCIT:C3619|ICD9:223.81 owl:Class MONDO:0024321 biolink:NamedThing disorder of GPI anchor biosynthesis A disease that has its basis in the disruption of GPI anchor biosynthetic process. tmpak2llvmy_mondo_relaxed.owl disorder of GPI anchor biosynthetic process|glycosylphosphatidylinositol biosynthesis defect|GPI anchor biosynthetic process disease|GPIBD May be inborn or somatic owl:Class MONDO:0017745 biolink:NamedThing disorder of O-mannosylglycan synthesis tmpak2llvmy_mondo_relaxed.owl ICD10:E77.8|Orphanet:309469|UMLS:CN227192 owl:Class MONDO:0017741 biolink:NamedThing disorder of protein O-glycosylation A disease that has its basis in the disruption of protein O-linked glycosylation. tmpak2llvmy_mondo_relaxed.owl disorder of protein O-linked glycosylation|protein O-linked glycosylation disease Orphanet:309447|ICD10:E77.8|UMLS:CN227188 owl:Class MONDO:0018100 biolink:NamedThing familial primary hypomagnesemia A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. tmpak2llvmy_mondo_relaxed.owl hypomagnesemia|familial primary hypomagnesemia|HOMG|primary familial hypomagnesemia SCTID:80710001|ICD10:E83.4|Orphanet:34526|DOID:0060879|NCIT:C123263|GARD:0002906|OMIMPS:602014 owl:Class GO:1903303 biolink:NamedThing negative regulation of pyruvate kinase activity Any process that stops, prevents or reduces the frequency, rate or extent of pyruvate kinase activity. tmpak2llvmy_mondo_relaxed.owl downregulation of phosphoenol transphosphorylase activity|downregulation of ATP:pyruvate 2-O-phosphotransferase activity|downregulation of phosphoenolpyruvate kinase activity|inhibition of ATP:pyruvate 2-O-phosphotransferase activity|down regulation of pyruvate kinase activity|down-regulation of phosphoenol transphosphorylase activity|inhibition of phosphoenolpyruvate kinase activity|down-regulation of ATP:pyruvate 2-O-phosphotransferase activity|negative regulation of phosphoenol transphosphorylase activity|down regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of phosphoenol transphosphorylase activity|negative regulation of phosphoenolpyruvate kinase activity|down regulation of phosphoenol transphosphorylase activity|down regulation of phosphoenolpyruvate kinase activity|downregulation of pyruvate kinase activity|down-regulation of phosphoenolpyruvate kinase activity|down-regulation of pyruvate kinase activity|negative regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of pyruvate kinase activity owl:Class GO:0016765 biolink:NamedThing transferase activity, transferring alkyl or aryl (other than methyl) groups Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl transferase activity, transferring alkyl or aryl groups, other than methyl groups owl:Class GO:0016740 biolink:NamedThing transferase activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016229 biolink:NamedThing genetic vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic vascular anomaly Orphanet:211240 owl:Class MONDO:0021503 biolink:NamedThing benign neoplasm of gallbladder A benign neoplasm that involves the gall bladder. tmpak2llvmy_mondo_relaxed.owl benign gallbladder neoplasm|benign neoplasm of the gallbladder|benign gallbladder tumor|benign tumor of gallbladder|gallbladder benign tumor|gallbladder benign neoplasm|gall bladder benign neoplasm|benign tumor of the gallbladder UMLS:C0345912|NCIT:C4440|DOID:0080640|SCTID:92117002 owl:Class HP:0001635 biolink:NamedThing Congestive heart failure The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. tmpak2llvmy_mondo_relaxed.owl Heart failure|Chronic heart failure|Cardiac insufficiency|Cardiac failure|Cardiac failures|CHF MSH:D006333|UMLS:C0018802|SNOMEDCT_US:42343007|SNOMEDCT_US:84114007|UMLS:C0018801 HP:0006686 human_phenotype owl:Class MONDO:0002653 biolink:NamedThing Paget disease of the penis A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003 tmpak2llvmy_mondo_relaxed.owl Paget's disease of the penis|penile adenocarcinoma|Paget disease of the penis|penis Paget disease|penis mammary Paget's disease|Paget's disease of penis|penis Paget's disease SCTID:398768004|NCIT:C27817|DOID:3448|UMLS:C0221286 owl:Class MONDO:0021165 biolink:NamedThing Paget disease A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum. tmpak2llvmy_mondo_relaxed.owl Paget's cell neoplasm|Paget cell neoplasm|Paget disease|Paget's disease NCIT:C7073 owl:Class MONDO:0002021 biolink:NamedThing gingival disease A disease involving the gingiva. tmpak2llvmy_mondo_relaxed.owl disease or disorder of gingiva|gingiva disease|gingiva disease or disorder|disorder of gingiva|disease of gingiva MESH:D005882|UMLS:C0017563|DOID:1483|SCTID:18718003 owl:Class MONDO:0013337 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 1C A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. tmpak2llvmy_mondo_relaxed.owl HSAN 1C|HSAN1C|neuropathy, hereditary sensory and autonomic, type IC|hereditary sensory and autonomic neuropathy type IC|neuropathy, hereditary sensory, type 1C|hereditary sensory and autonomic neuropathy type 1C|HSN 1C OMIM:613640|UMLS:C3150896|DOID:0070157 owl:Class MONDO:0018213 biolink:NamedThing hereditary sensory and autonomic neuropathy type 1 Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. tmpak2llvmy_mondo_relaxed.owl hereditary sensory neuropathy type 1|hereditary sensory and autonomic neuropathy type I|neuropathy hereditary sensory radicular, autosomal dominant|HSAN 1|neuropathy hereditary sensory and autonomic type 1|HSN1|HSAN1 PMID:18348718|Orphanet:36386|GARD:6635|GARD:0006635|SCTID:397734008|ICD10:G60.8|DOID:0070162 owl:Class GO:0006859 biolink:NamedThing extracellular carbohydrate transport The directed extracellular movement of carbohydrates. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006858 biolink:NamedThing extracellular transport The transport of substances that occurs outside cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000299 biolink:NamedThing thelaziasis A disease caused by infection with Thelazia. tmpak2llvmy_mondo_relaxed.owl Thelazia disease or disorder|Thelazia caused disease or disorder|thelaziasis|thelaziosis|infection by Thelazia|Thelazia infectious disease|verminous ophthalmia|infection caused by Thelazia|conjunctival spirurosis ICD9:128.8|SCTID:46477004|DOID:0050261|UMLS:C0344058 owl:Class HP:0012759 biolink:NamedThing Neurodevelopmental abnormality A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. tmpak2llvmy_mondo_relaxed.owl UMLS:C4022737 This term should be used to describe abnormalities with onset in the developmental period. peter 2014-04-03T12:20:28Z human_phenotype owl:Class HP:0012638 biolink:NamedThing Abnormal nervous system physiology A functional anomaly of the nervous system. tmpak2llvmy_mondo_relaxed.owl Abnormality of nervous system physiology UMLS:C4022811 peter 2014-01-19T08:02:46Z human_phenotype owl:Class MONDO:0015586 biolink:NamedThing benign familial mesial temporal lobe epilepsy Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. tmpak2llvmy_mondo_relaxed.owl benign FMTLE Orphanet:163717|UMLS:CN226709 owl:Class MONDO:0017704 biolink:NamedThing familial partial epilepsy An instance of partial epilepsy that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl epilepsy, partial, familial|hereditary partial epilepsy ICD10:G40.1|GARD:0002173|UMLS:CN227178|Orphanet:309 https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial owl:Class MONDO:0021508 biolink:NamedThing benign neoplasm of epicardium A benign neoplasm that involves the epicardium. tmpak2llvmy_mondo_relaxed.owl benign epicardial neoplasm|benign tumor of epicardium|benign tumor of the epicardium|benign neoplasm of the epicardium|epicardium benign neoplasm|benign epicardial tumor UMLS:C0685115|NCIT:C8535|SCTID:92087008 owl:Class UBERON:0016512 biolink:NamedThing lumen of duodenum A anatomical space that is part of a duodenum. tmpak2llvmy_mondo_relaxed.owl doudenal lumen|duodenal lumen owl:Class CL:0000809 biolink:NamedThing double-positive, alpha-beta thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. tmpak2llvmy_mondo_relaxed.owl DP thymocyte|late cortical thymocyte|double-positive, alpha-beta immature T lymphocyte|DP cell Thymocytes of this stage are undergoing positive and negative selection. cell owl:Class CL:0000893 biolink:NamedThing thymocyte An immature T cell located in the thymus. tmpak2llvmy_mondo_relaxed.owl immature T-lymphocyte|immature T-cell|immature T cell|immature T lymphocyte|thymic lymphocyte FMA:72202|BTO:0001372|CALOHA:TS-1042|XAO:0003159 cell owl:Class MONDO:0060768 biolink:NamedThing gingival fibroepithelial polyp A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma. tmpak2llvmy_mondo_relaxed.owl fibroepithelial polyp of the gingiva|fibroepithelial polyp of gum|fibroepithelial polyp of the gum|gum fibroepithelial polyp|gingival fibroepithelial polyp|fibroepithelial polyp of gingiva SCTID:235001002|NCIT:C4693|UMLS:C0399441 owl:Class MONDO:0060765 biolink:NamedThing fibroepithelial polyp A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp. tmpak2llvmy_mondo_relaxed.owl fibropapilloma, benign|fibroepithelial polyp NCIT:C3337 owl:Class MONDO:0007893 biolink:NamedThing Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. tmpak2llvmy_mondo_relaxed.owl lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness|generalized lentiginosis|Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome|Gorlin syndrome II|LEOPARD syndrome|familial multiple lentigines syndrome|Cardiomyopathic lentiginosis|progressive cardiomyopathic lentiginosis|Noonan syndrome with multiple lentigines|Moynahan syndrome|lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes|lentiginosis profusa syndrome ICD9:709.09|MedDRA:10062901|DOID:14291|UMLS:CN074218|OMIMPS:151100|ICD10:Q87.1|GARD:0001100|SCTID:111306001|MESH:D044542|UMLS:C0175704|Orphanet:500|NCIT:C84820 owl:Class SO:0001254 biolink:NamedThing polyploid A kind of chromosome variation where the chromosome complement is an exact multiple of the haploid number and is greater than the diploid number. tmpak2llvmy_mondo_relaxed.owl owl:Class SO:1000182 biolink:NamedThing chromosome_number_variation A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number. tmpak2llvmy_mondo_relaxed.owl Jannovar:chromosome_number_variation|chromosome number variation owl:Class MONDO:0003159 biolink:NamedThing vascular hemostatic disease Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets. tmpak2llvmy_mondo_relaxed.owl disorders, vascular hemostatic|vascular hemostatic disorders|hemostatic disorders, vascular|disorder, vascular hemostatic|hemostatic disorder|hemostatic disorder, vascular|vascular hemostatic disorder SCTID:21112004|MESH:D020141|UMLS:C0600502|DOID:484 owl:Class MONDO:0002243 biolink:NamedThing hemorrhagic disease Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). tmpak2llvmy_mondo_relaxed.owl bleeding diathesis|bleeding predisposition|hemorrhagic disease|bleeding disorder|bleeding tendency|hemorrhagic diathesis ICD9:287.9|NCIT:C115221|MESH:D006474|ICD10:D69.9|DOID:2213 owl:Class HP:0011030 biolink:NamedThing Abnormal blood transition element cation concentration An abnormality of the homeostasis (concentration) of transition element cation. tmpak2llvmy_mondo_relaxed.owl Abnormality of transition element cation homeostasis UMLS:C4023584 peter 2011-03-04T07:59:31Z human_phenotype owl:Class MONDO:0015257 biolink:NamedThing sino-auricular heart block tmpak2llvmy_mondo_relaxed.owl Orphanet:1260|ICD10:I45.5|UMLS:CN199152 owl:Class MONDO:0015110 biolink:NamedThing genetic cardiac rhythm disease An instance of cardiac rhythm disease that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic cardiac rhythm disease Orphanet:101934|UMLS:CN197467 owl:Class MONDO:0018582 biolink:NamedThing GCGR-related hyperglucagonemia tmpak2llvmy_mondo_relaxed.owl Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor|Mahvash disease|Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor UMLS:CN237611|GARD:0010460|ICD10:E16.3|Orphanet:438274 owl:Class MONDO:0021040 biolink:NamedThing pancreatic neoplasm A benign or malignant neoplasm involving the pancreas. tmpak2llvmy_mondo_relaxed.owl pancreas neoplasm|pancreas tumor|pancreas|pancreatic neoplasm|tumor of pancreas|pancreas neoplasm (disease)|pancreatic tumor|neoplasm of pancreas|neoplasm of the pancreas|tumor of the pancreas EFO:0003860|MESH:D010190|ONCOTREE:PANCREAS|NCIT:C3305|SCTID:126859007 owl:Class NCBITaxon:2697049 biolink:NamedThing Severe acute respiratory syndrome coronavirus 2 tmpak2llvmy_mondo_relaxed.owl SARS-CoV2|COVID19|SARS-CoV-2|2019-nCoV|SARS-2|SARS2|COVID-19 virus|COVID-19|Wuhan coronavirus|Human coronavirus 2019|HCoV-19 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694009 biolink:NamedThing Severe acute respiratory syndrome-related coronavirus tmpak2llvmy_mondo_relaxed.owl SARS-related coronavirus|HCoV-SARS|Human coronavirus (strain SARS)|SARSrCoV|SARS|Severe acute respiratory syndrome coronavirus|SARS virus|SARS-like coronavirus|SARS coronavirus|SARSr-CoV GC_ID:1 NCBITaxon:311178|NCBITaxon:227859 ncbi_taxonomy owl:Class CHEBI:33424 biolink:NamedThing sulfur oxoacid derivative tmpak2llvmy_mondo_relaxed.owl sulfur oxoacid derivatives|sulfur oxoacid derivative owl:Class CHEBI:26835 biolink:NamedThing sulfur molecular entity tmpak2llvmy_mondo_relaxed.owl sulfur molecular entities|sulfur molecular entity owl:Class MONDO:0007726 biolink:NamedThing hip dysplasia, Beukes type Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. tmpak2llvmy_mondo_relaxed.owl BHD|Beukes hip dysplasia|Cilliers-Beighton syndrome|osteoarthropathy, premature degenerative, of hip|Beukes familial hip dysplasia|BFHD|hip dysplasia, Beukes type|premature degenerative osteoarthropathy of the hip|hip dysplasia Beukes type ICD10:Q65.8|SCTID:721148005|OMIM:142669|GARD:0002690|Orphanet:2114|MESH:C564185|DOID:0111367 owl:Class MONDO:0019692 biolink:NamedThing multiple epiphyseal dysplasia and pseudoachondroplasia tmpak2llvmy_mondo_relaxed.owl ICD10:Q78.8|Orphanet:93429 owl:Class MONDO:0013327 biolink:NamedThing primary hyperoxaluria type 3 Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. tmpak2llvmy_mondo_relaxed.owl PH III|HOGA1 primary hyperoxaluria|primary hyperoxaluria type III|hyperoxaluria, primary, type III|primary hyperoxaluria caused by mutation in HOGA1|HP3|hyperoxaluria, primary, type 3 DOID:0111672|Orphanet:93600|NCIT:C123214|GARD:0010738|OMIM:613616|SCTID:734990008|ICD10:E74.8|UMLS:C3150878 https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3 owl:Class MONDO:0017806 biolink:NamedThing 15q overgrowth syndrome 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.3|UMLS:CN203769|Orphanet:314585 owl:Class MONDO:0016965 biolink:NamedThing partial duplication of the long arm of chromosome 15 Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl chromosome 15q duplication|15q trisomy|partial trisomy of the long arm of chromosome 15|partial duplication of the long arm of chromosome type 15|partial duplication of chromosome 15q|partial trisomy of chromosome 15q|partial trisomy 15q|15q duplication|trisomy 15q|Duplication 15q UMLS:C0795858|MESH:C538040|Orphanet:262950|GARD:0005314 owl:Class MONDO:0006421 biolink:NamedThing small intestinal tubular adenoma A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl NCIT:C43552|UMLS:C1710112|EFO:1000538 owl:Class MONDO:0021303 biolink:NamedThing adenoma of small intestine A adenoma that involves the small intestine. tmpak2llvmy_mondo_relaxed.owl adenoma of the small intestine|small intestine adenoma|small bowel adenoma|adenoma of small bowel|adenoma of the small bowel|small intestinal adenoma NCIT:C5340|UMLS:C1302392|SCTID:399422005 owl:Class MONDO:0013204 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 4 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene. tmpak2llvmy_mondo_relaxed.owl Fuchs' endothelial dystrophy caused by mutation in SLC4A11|corneal dystrophy, Fuchs endothelial, type 4|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 4|FECD4|SLC4A11 Fuchs' endothelial dystrophy OMIM:613268|UMLS:C2750450 owl:Class MONDO:0005321 biolink:NamedThing Fuchs' endothelial dystrophy Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. tmpak2llvmy_mondo_relaxed.owl FECD|Endoepithelial corneal dystrophy|Fuchs endothelial dystrophy|late hereditary endothelial dystrophy|Fuchs endothelial corneal dystrophy|Fuchs' endothelial corneal dystrophy|FCED|Fuchs' corneal dystrophy|corneal dystrophy, Fuchs endothelial SCTID:193839007|ICD10:H18.5|NCIT:C84721|OMIMPS:136800|ICD10:H18.51|UMLS:C0016781|DOID:11555|MESH:D005642|Orphanet:98974|EFO:0003946|UMLS:CN207231 owl:Class OBO:CHR_9606-chr4 biolink:NamedThing chr4 (Human) tmpak2llvmy_mondo_relaxed.owl 190214555 0 hg38 owl:Class GO:0005694 biolink:NamedThing chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. tmpak2llvmy_mondo_relaxed.owl prophase chromosome|chromatid|interphase chromosome owl:Class UBERON:0000016 biolink:NamedThing endocrine pancreas The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. tmpak2llvmy_mondo_relaxed.owl islets of Langerhans part of pancreas|endocrine part of pancreas|pars endocrina pancreatis|endocrine pancreas owl:Class HGNC:19042 biolink:NamedThing MASTL tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000013 biolink:NamedThing fibroblast of skin of abdomen Any skin fibroblast that is part of a skin of abdomen. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T15:18:16Z cell owl:Class CL:0002620 biolink:NamedThing skin fibroblast A fibroblast of skin. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0935|BTO:0001255 tmeehan 2011-03-14T12:31:49Z cell owl:Class UBERON:0001351 biolink:NamedThing lacrimal sac The upper dilated end of the nasolacrimal duct that is lodged in a deep groove formed by the lacrimal bone and frontal process of the maxilla; it connects the lacrimal canaliculi, which drain tears from the eye's surface, and the nasolacrimal duct, which conveys this fluid into the nasal cavity; like the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue. tmpak2llvmy_mondo_relaxed.owl lacrymal sac|saccus lacrimalis|lachrymal sac owl:Class UBERON:0004220 biolink:NamedThing large intestine smooth muscle A portion of smooth muscle tissue that is part of a large intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl large intestine involuntary muscle|involuntary muscle of large intestine|non-striated muscle of large intestine|smooth muscle of large intestine|large intestine smooth muscle tissue|large intestine non-striated muscle|smooth muscle tissue of large intestine owl:Class UBERON:0004221 biolink:NamedThing intestine smooth muscle A portion of smooth muscle tissue that is part of a intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl involuntary muscle of bowel|smooth muscle tissue of bowel|non-striated muscle of bowel|involuntary muscle of intestine|intestinal smooth muscle|smooth muscle tissue of intestine|bowel smooth muscle tissue|bowel non-striated muscle|intestine smooth muscle tissue|smooth muscle of intestine|intestinal muscularis|non-striated muscle of intestine|bowel smooth muscle|intestine involuntary muscle|intestine non-striated muscle|smooth muscle of bowel|bowel involuntary muscle owl:Class MONDO:0010375 biolink:NamedThing developmental and epileptic encephalopathy, 8 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 8|early infantile epileptic encephalopathy 8|epileptic encephalopathy, early infantile, type 8|DEE8|EIEE8|hyperekplexia and epilepsy|hyperekplexia-epilepsy syndrome OMIM:300607|DOID:0080215|UMLS:C1845102|MESH:C564474|Orphanet:163985|ICD10:G25.8 owl:Class MONDO:0015920 biolink:NamedThing syndromic neurometabolic disease with X-linked intellectual disability tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:182076|UMLS:CN200518 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurometabolic disease' MONDO_0019058 owl:Class HGNC:13429 biolink:NamedThing RLIM tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11528 biolink:NamedThing TACR3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014034 biolink:NamedThing severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant type 18|autosomal dominant mental retardation 18|autosomal dominant non-syndromic intellectual disability 18|GATAD2B-associated neurodevelopmental disorder|mental retardation, autosomal dominant 18|severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome|mental retardation, autosomal dominant type 18|intellectual disability, autosomal dominant 18|MRD18|autosomal dominant intellectual disability 18 ICD10:Q87.8|GARD:0012815|Orphanet:363686|DOID:0070048|UMLS:C3554448|OMIM:615074 owl:Class MONDO:0004471 biolink:NamedThing bacterial arthritis The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. tmpak2llvmy_mondo_relaxed.owl septic arthritis|infectious arthritis|pyogenic arthritis ICD10:M00.9|MESH:D001170|ICD9:711.90|ICD9:711.91|ICD9:711.96|ICD9:711.97|ICD9:711.92|ICD9:711.0|ICD10:M00|DOID:813|SCTID:48245008|ICD9:711.40|ICD9:711.9|EFO:1001351|ICD9:711.95|ICD9:711.94|NCIT:C26699|ICD9:711.93 owl:Class UBERON:0015875 biolink:NamedThing heel The part of the foot that is the projection of the calcaneus. tmpak2llvmy_mondo_relaxed.owl regio calcanea|heel region|calcaneal region owl:Class MONDO:0044621 biolink:NamedThing 16p12.1p12.3 triplication syndrome 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. tmpak2llvmy_mondo_relaxed.owl trip(16)(p12.1p12.3)|tetrasomy 16p12.1p12.3|tetrasomy 16p12.1-p12.3 Orphanet:485405 owl:Class MONDO:0016949 biolink:NamedThing partial duplication of the short arm of chromosome 16 Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl chromosome 16p duplication|16p trisomy|partial trisomy of the short arm of chromosome 16|partial duplication of chromosome 16p|partial trisomy 16p|partial trisomy of chromosome 16p|trisomy 16p|16p duplication|Duplication 16p|partial duplication of the short arm of chromosome type 16 Orphanet:262794|UMLS:C0795861|GARD:0005315 owl:Class MONDO:0019420 biolink:NamedThing X-linked intellectual disability, Pai type X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|Orphanet:85322|UMLS:CN206176|SCTID:719011002 owl:Class HP:0009827 biolink:NamedThing Amelia Congenital absence (aplasia) of one or more limbs. tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001926|SNOMEDCT_US:62588002|UMLS:C0002447|MSH:D004480 doelkens 2009-02-23T05:17:25Z human_phenotype owl:Class HP:0009815 biolink:NamedThing Aplasia/hypoplasia of the extremities Absence (due to failure to form) or underdevelopment of the extremities. tmpak2llvmy_mondo_relaxed.owl Shortened limbs|Absent/small extremities|Absent/underdeveloped extremities|Short or absent limbs UMLS:C0239399 doelkens 2009-02-23T05:06:40Z HP:0006497|HP:0002969 human_phenotype owl:Class MONDO:0013764 biolink:NamedThing Joubert syndrome 16 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome caused by mutation in TMEM138|Joubert syndrome 16|JBTS16|TMEM138 Joubert syndrome|Joubert syndrome type 16 OMIM:614465|DOID:0110985|UMLS:C3280906 owl:Class MONDO:0018772 biolink:NamedThing Joubert syndrome Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. tmpak2llvmy_mondo_relaxed.owl cerebellar vermis agenesis|Joubert-Boltshauser syndrome|Joubert syndrome type A|JBTS|classic Joubert syndrome|pure Joubert syndrome|Joubert syndrome|cerebelloparenchymal disorder IV|CPD IV Orphanet:475|NCIT:C74996|ICD10:Q04.3|SCTID:716997004|OMIMPS:213300|GARD:0006802|DOID:0050777 owl:Class HGNC:1242 biolink:NamedThing C1QB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7679 biolink:NamedThing NDRG1 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000044 biolink:NamedThing marine pelagic feature A prominent or distinctive aspect, quality, or characteristic of environments occurring within the marine water column. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000012 biolink:NamedThing hydrographic feature A geographical feature associated with water. tmpak2llvmy_mondo_relaxed.owl fluvial feature owl:Class MONDO:0007698 biolink:NamedThing hand-foot-genital syndrome Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. tmpak2llvmy_mondo_relaxed.owl HFGS|hand foot uterus syndrome|HFG syndrome|HFG|HFU syndrome|hand foot genital syndrome|hand-foot-genital syndrome|hand-foot-uterus syndrome Orphanet:2438|SCTID:702425002|GARD:0002594|DOID:0060739|MedDRA:10072361|ICD10:Q51.2|UMLS:C1841679|OMIM:140000|MESH:C535627|ICD9:759.89 owl:Class MONDO:0015846 biolink:NamedThing syndromic uterovaginal malformation A uterovaginal malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic uterovaginal malformation|syndrome associated with uterovaginal malformation Orphanet:180148|UMLS:CN226751 owl:Class UBERON:0000353 biolink:NamedThing parenchyma functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000064 biolink:NamedThing organ part A multicellular structure that is a part of an organ. tmpak2llvmy_mondo_relaxed.owl regional part of organ|cardinal organ part owl:Class MONDO:0032821 biolink:NamedThing myopathy, congenital, progressive, with scoliosis tmpak2llvmy_mondo_relaxed.owl MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS|MYOSCO OMIM:618578 owl:Class MONDO:0011686 biolink:NamedThing DNA ligase IV deficiency LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). tmpak2llvmy_mondo_relaxed.owl LIG4 syndrome|ligase 4 syndrome|DNA ligase IV deficiency ICD10:D81.1|UMLS:C1847827|OMIM:606593|NCIT:C122657|DOID:0060021|MESH:C564694|SCTID:724177005|Orphanet:99812 owl:Class MONDO:0017855 biolink:NamedThing T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. tmpak2llvmy_mondo_relaxed.owl T-B- SCID ICD10:D81.1|Orphanet:317419 owl:Class MONDO:0014410 biolink:NamedThing spinocerebellar ataxia type 37 Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements. tmpak2llvmy_mondo_relaxed.owl SCA37|spinocerebellar ataxia with altered vertical eye movements|spinocerebellar ataxia 37 OMIM:615945|GARD:0012368|UMLS:C4304821|Orphanet:363710|SCTID:719301002|UMLS:C3889636|ICD10:G11.8|DOID:0050984 owl:Class MONDO:0019792 biolink:NamedThing autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. tmpak2llvmy_mondo_relaxed.owl cerebellar plus syndrome|autosomal dominant cerebellar ataxia type 1|ADCAI|ADCA1 ICD10:G11.8|UMLS:CN206744|Orphanet:94145 owl:Class MONDO:0003924 biolink:NamedThing adrenal cortex adenoma A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) tmpak2llvmy_mondo_relaxed.owl adenoma of the adrenal gland|adenoma of the adrenal cortex|cortical cell adenoma|adrenal incidentaloma|adenoma of adrenal gland|benign adenoma of adrenal gland|benign adrenal adenoma|benign adrenal gland adenoma|adenoma of adrenal cortex|adrenocortical adenoma|adrenal cortex adenoma|adenoma, adrenocortical, benign|benign adenoma of the adrenal gland|adrenal adenoma|adrenal gland adenoma|adrenal cortical adenoma SCTID:302826002|GARD:0005745|HP:0008196|DOID:656|ONCOTREE:ACA|ICDO:8370/0|NCIT:C9003|EFO:0003104|HP:0008256|DOID:0050891|MESH:D018246|Orphanet:463|UMLS:C0206667 MONDO:0005248 owl:Class MONDO:0036976 biolink:NamedThing benign epithelial neoplasm A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl benign tumor of the epithelium|benign epithelial neoplasm|benign epithelial tumor|benign neoplasm of epithelium|benign epithelioma|benign tumor of epithelium|benign neoplasm of the epithelium|epithelial neoplasm, benign|epithelioma, benign NCIT:C4092|ICDO:8010/0|ICDO:8011/0|UMLS:C0334232 owl:Class MONDO:0004170 biolink:NamedThing nodular episcleritis tmpak2llvmy_mondo_relaxed.owl DOID:728|ICD9:379.02|SCTID:70558001|UMLS:C0155352|ICD10:H15.12 owl:Class MONDO:0001269 biolink:NamedThing scleral disease A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare. tmpak2llvmy_mondo_relaxed.owl sclera disease or disorder|scleral disorder|sclera disease|sclera disorder|disorder of sclera|disease of sclera|disease or disorder of sclera NCIT:C79717|UMLS:C0036412|SCTID:33064008|ICD9:379.19|DOID:11343|MESH:D015422|ICD10:H15.9|ICD10:H15 owl:Class MONDO:0020048 biolink:NamedThing internal carotid agenesis Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography. tmpak2llvmy_mondo_relaxed.owl agenesis of the internal carotid artery|internal carotid artery agenesis GARD:0003012|Orphanet:981|ICD10:Q28.1|SCTID:722004001 https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-agenesis owl:Class MONDO:0015145 biolink:NamedThing neurovascular malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:102006 owl:Class MONDO:0019488 biolink:NamedThing myoclonic epilepsy in non-progressive encephalopathies A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances. tmpak2llvmy_mondo_relaxed.owl myoclonus epilepsy in non-progressive encephalopathies|myoclonic status in non-progressive encephalopathies ICD10:G40.4|Orphanet:86913 owl:Class MONDO:0020071 biolink:NamedThing infantile epilepsy syndrome A epilepsy syndrome that occurs between 28 days to one year of life.. tmpak2llvmy_mondo_relaxed.owl epilepsy syndrome of infancy|infantile epilepsy syndrome|infantile onset epilepsy syndrome Orphanet:98258|UMLS:CN206975|ICD10:G40.4 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class HGNC:16192 biolink:NamedThing SLC17A9 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042476 biolink:NamedThing odontogenesis The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. tmpak2llvmy_mondo_relaxed.owl odontogenesis of calcareous or chitinous tooth|tooth morphogenesis|odontosis|tooth development|odontogeny owl:Class GO:0009887 biolink:NamedThing animal organ morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpak2llvmy_mondo_relaxed.owl histogenesis and organogenesis owl:Class HP:0100887 biolink:NamedThing Abnormality of globe size An abnormality in the size of the ocular globe (eyeball). tmpak2llvmy_mondo_relaxed.owl Abnormality of eyeball size|Eye size difference UMLS:C4021945 doelkens 2011-12-13T04:25:29Z HP:0010725 human_phenotype owl:Class HP:0012372 biolink:NamedThing Abnormal eye morphology A structural anomaly of the globe of the eye, or bulbus oculi. tmpak2llvmy_mondo_relaxed.owl Abnormality of the globe|Abnormally shaped eye|Abnormal eye structure Fyler:4863|UMLS:C4022925 previously: Abnormal globe morphology peter 2013-10-13T03:44:43Z HP:0012374|HP:0000489 human_phenotype owl:Class MONDO:0018083 biolink:NamedThing transient tyrosinemia of the newborn Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. tmpak2llvmy_mondo_relaxed.owl transient neonatal tyrosinemia|transient tyrosinemia of the neonate|tyrosine-oxidase temporary deficiency Orphanet:3402|ICD10:P74.5|UMLS:CN204402|GARD:0005388 owl:Class MONDO:0017307 biolink:NamedThing disorder of tyrosine metabolism tmpak2llvmy_mondo_relaxed.owl ICD10:E70.2|SCTID:37200009|Orphanet:284818|UMLS:CN202881|ICD9:270.2 owl:Class UBERON:0005760 biolink:NamedThing urorectal septum The ridge of mesoderm covered with endoderm that in the early developing embryo partitions the endodermal cloaca into the primary urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally); the urorectal septum eventually fuses with the cloacal membrane, dividing it into a dorsal anal membrane and a larger ventral urogenital membrane - this area of fusion is represented in the adult by the perineal body[MP]. tmpak2llvmy_mondo_relaxed.owl urorectal fold|septum urorectale|urorectal membrane|cloacal septum owl:Class UBERON:0003037 biolink:NamedThing septum A wall, dividing a cavity or structure into smaller ones[WP]. tmpak2llvmy_mondo_relaxed.owl septa owl:Class CL:0000823 biolink:NamedThing immature natural killer cell A natural killer cell that is developmentally immature and expresses natural killer cell receptors (NKR). tmpak2llvmy_mondo_relaxed.owl immature NK cell|p-NK In mouse the NKR are Ly49 molecules and in human these cells express KIR molecules. cell owl:Class CL:0001082 biolink:NamedThing immature innate lymphoid cell An innate lyphoid cell with an immature phenotype. tmpak2llvmy_mondo_relaxed.owl immature ILC owl:Class NCBITaxon:431838 biolink:NamedThing Intramacronucleata tmpak2llvmy_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class NCBITaxon:5878 biolink:NamedThing Ciliophora tmpak2llvmy_mondo_relaxed.owl ciliates|Ciliata GC_ID:6 ncbi_taxonomy owl:Class MONDO:0021026 biolink:NamedThing genetic epidermal appendage anomaly An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic epidermal appendage anomaly Orphanet:183447 owl:Class MONDO:0014605 biolink:NamedThing microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant type 36|mental retardation, autosomal dominant 36|autosomal dominant non-syndromic intellectual disability 36|intellectual disability, autosomal dominant type 36|autosomal dominant intellectual disability 36|autosomal dominant mental retardation 36|intellectual disability, autosomal dominant 36|MRD36 OMIM:616362|Orphanet:457284|DOID:0070066 owl:Class MONDO:0003087 biolink:NamedThing mucoepidermoid breast carcinoma A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare. tmpak2llvmy_mondo_relaxed.owl mucoepidermoid carcinoma of breast|breast mucoepidermoid carcinoma|mucoepidermoid breast carcinoma|mucoepidermoid carcinoma of the breast UMLS:C1334813|NCIT:C5166|DOID:4679 owl:Class MONDO:0006256 biolink:NamedThing invasive breast carcinoma A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women. tmpak2llvmy_mondo_relaxed.owl invasive carcinoma of the breast|infiltrating breast cancer|infiltrating breast carcinoma|invasive breast carcinoma|invasive carcinoma of breast|invasive breast cancer|invasive mammary carcinoma|infiltrating carcinoma of breast|BRCA|infiltrating carcinoma of the breast EFO:1000307|ONCOTREE:BRCA|UMLS:C0853879|NCIT:C9245|SCTID:713609000 owl:Class MONDO:0006576 biolink:NamedThing Ludwig's angina Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl cellulitis (disease) of mouth floor|Ludwig angina|cellulitis of floor of mouth|mouth floor cellulitis (disease) UMLS:C3247204|ICD9:528.3|EFO:1000730|UMLS:C0024081|SCTID:196542004|MESH:D008158|Wikipedia:Ludwig's_angina|DOID:4558 owl:Class MONDO:0006858 biolink:NamedThing mouth disease A disease involving the mouth. tmpak2llvmy_mondo_relaxed.owl oral disease|disease of mouth|disorder of mouth|mouth disease|mouth disease or disorder|disease or disorder of mouth|oral disorder MESH:D009059|SCTID:118938008|NCIT:C3240|ICD9:528.9|EFO:1001047|DOID:403|UMLS:C0026636 owl:Class MONDO:0010672 biolink:NamedThing linear skin defects with multiple congenital anomalies A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms. tmpak2llvmy_mondo_relaxed.owl linear skin defects with multiple congenital anomalies 1|linear skin defects with multiple congenital anomalies|MCOPS7|microphthalmia dermal aplasia and sclerocornea syndrome|MIDAS syndrome|microphthalmia-dermal aplasia-sclerocornea syndrome|syndromic microphthalmia type 7|linear skin defects with multiple congenital anomalies type 1|MLS syndrome|microphthalmia with linear skin defects syndrome|LSDMCA1|Micropthalmia syndromic 7 Orphanet:2556|SCTID:721879006|MESH:C537466|GARD:0003659|ICD10:Q11.2|OMIMPS:309801 Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome owl:Class MONDO:0017811 biolink:NamedThing severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion tmpak2llvmy_mondo_relaxed.owl Del(5)(q31.3)|5q31.3 microdeletion syndrome|monosomy 5q31.3 UMLS:CN203780|Orphanet:314655|SCTID:768555009|ICD10:Q93.5 owl:Class MONDO:0032809 biolink:NamedThing hepatitis, fulminant viral, susceptibility to tmpak2llvmy_mondo_relaxed.owl HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO|FVH OMIM:618549 owl:Class UBERON:0002387 biolink:NamedThing pes distal portion of the hind limb, including tarsal region, metatarsal region and digits. tmpak2llvmy_mondo_relaxed.owl hindlimb distal free limb segment|hindfoot|hindlimb autopod|hind-paw|hindlimb autopodium|pes|hind foot|hindpaw|foot|terminal segment of free lower limb|hind paw|hindfeet|hindfoot of quadruped|hind limb autopodium owl:Class UBERON:0008784 biolink:NamedThing lower limb segment A limb segment that is part of a hindlimb. tmpak2llvmy_mondo_relaxed.owl subdivision of free lower limb|segment of free lower limb|free lower limb subdivision|free lower limb segment owl:Class NCBITaxon:72273 biolink:NamedThing Thiotrichales tmpak2llvmy_mondo_relaxed.owl Thiomicrospira group|Thiothrix/Francisella group PMID:16280474|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1236 biolink:NamedThing Gammaproteobacteria tmpak2llvmy_mondo_relaxed.owl Proteobacteria gamma subdivision|gamma proteobacteria|gamma subgroup|Purple bacteria, gamma subdivision|g-proteobacteria|gamma subdivision PMID:23334881|PMID:16280474|GC_ID:11 ncbi_taxonomy owl:Class GO:1990542 biolink:NamedThing mitochondrial transmembrane transport The process in which a solute is transported from one side of a membrane to the other into, out of or within a mitochondrion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006839 biolink:NamedThing mitochondrial transport Transport of substances into, out of or within a mitochondrion. tmpak2llvmy_mondo_relaxed.owl mitochondrial sodium/calcium ion exchange|mitochondrial alpha-ketoglutarate/malate transport|mitochondrial aspartate/glutamate transport owl:Class CL:0002306 biolink:NamedThing epithelial cell of proximal tubule An epithelial cell of the proximal tubule of the kidney. tmpak2llvmy_mondo_relaxed.owl kidney proximal tubule epithelial cell KUPO:0001044|FMA:70973|FMA:62125 cell owl:Class CL:1000615 biolink:NamedThing kidney cortex tubule cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001024 cell owl:Class MONDO:0005546 biolink:NamedThing fibromyalgia A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. tmpak2llvmy_mondo_relaxed.owl fibromyalgia|fibromyalgia syndrome ICD10:M79.1|SCTID:203082005|NCIT:C87497|GARD:0012069|MESH:D005356|DOID:631|EFO:0005687|ICD10:M79.7|UMLS:C0016053|ICD9:729.1 https://github.com/monarch-initiative/mondo/issues/3170 owl:Class MONDO:0024317 biolink:NamedThing chronic pain syndrome Chronic form of disorder involving pain. tmpak2llvmy_mondo_relaxed.owl chronic pain disease|disorder involving pain, chronic|chronic disorder involving pain ICD9:338.4|SCTID:373621006|UMLS:C1298685|ICD10:G89.4 owl:Class MONDO:0017609 biolink:NamedThing renal tubular dysgenesis Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl primitive renal tubule syndrome|renotubular dysgenesis GARD:0000379|SCTID:702397002|Orphanet:3033|ICD10:Q63.8 owl:Class MONDO:0019720 biolink:NamedThing non-syndromic renal or urinary tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic renal or urinary tract malformation|nonsyndromic congenital anomaly of kidney and urinary tract|isolated renal or urinary tract malformation|isolated congenital anomaly of kidney and urinary tract Orphanet:93546 owl:Class MONDO:0042717 biolink:NamedThing Saul-Wilkes-Stevenson syndrome tmpak2llvmy_mondo_relaxed.owl Saul Wilkes Stevenson syndrome UMLS:C2931266|MESH:C536617|GARD:0000161 owl:Class MONDO:0009635 biolink:NamedThing microvillus inclusion disease Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium. tmpak2llvmy_mondo_relaxed.owl microvillous inclusion disease|microvillus inclusion disease|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|secretory diarrhea caused by mutation in MYO5B|Davidson's disease|congenital familial protracted diarrhea with enterocyte Brush-border abnormalities|congenital microvillous atrophy|congenital microvillus atrophy|MVD|familial enteropathy, microvillus|diarrhea 2, with microvillus atrophy|diarrhea 2 with microvillus atrophy|Davidson disease|MVID|microvillus atrophy, congenital|DIAR2|MYO5B secretory diarrhea|congenital familial protracted diarrhea|intractable diarrhea of infancy DOID:0060775|OMIM:251850|GARD:0007039|SCTID:235729009|Orphanet:2290|UMLS:C0341306|MedDRA:10068494|ICD10:P78.3|ICD9:579.8 owl:Class MONDO:0019126 biolink:NamedThing intractable diarrhea of infancy Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. tmpak2llvmy_mondo_relaxed.owl IDI Orphanet:73014 owl:Class MONDO:0020396 biolink:NamedThing anomaly of the tricuspid valve chordae Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported. tmpak2llvmy_mondo_relaxed.owl ICD10:Q22.8|Orphanet:99055 owl:Class MONDO:0001608 biolink:NamedThing vagus nerve neoplasm A neoplasm involving a vagus nerve. tmpak2llvmy_mondo_relaxed.owl Xth cranial nerve tumors|Vagus nerve tumors|tenth cranial nerve neoplasm|tumor of the tenth cranial nerve|neoplasm of vagus nerve|Vagus nerve neoplasms|tumor of vagus nerve|Xth cranial nerve neoplasms|neoplasm of the tenth cranial nerve|tumor of the Vagus nerve|neoplasm of Vagus nerve|vagus nerve neoplasm (disease)|tenth cranial nerve neoplasms|Vagus nerve neoplasm|tumor of Vagus nerve|tenth cranial nerve tumor|neoplasm of the Vagus nerve|tenth cranial nerve tumors|neoplasm of tenth cranial nerve|vagus nerve tumor|tumor of tenth cranial nerve|Vagus nerve tumor DOID:12984|NCIT:C5831|UMLS:C1263901|SCTID:126976007|ICD9:239.7 owl:Class MONDO:0002638 biolink:NamedThing glossopharyngeal nerve neoplasm A neoplasm involving a glossopharyngeal nerve. tmpak2llvmy_mondo_relaxed.owl glossopharyngeal nerve neoplasm|glossopharyngeal nerve neoplasm (disease)|IXth cranial nerve tumors|Ninth cranial nerve neoplasm|glossopharyngeal nerve tumor|Ninth cranial nerve neoplasms|tumor of Ninth cranial nerve|neoplasm of the Ninth cranial nerve|tumor of glossopharyngeal nerve|Ninth cranial nerve tumors|IXth cranial nerve neoplasms|tumor of the glossopharyngeal nerve|neoplasm of the glossopharyngeal nerve|Ninth cranial nerve tumor|neoplasm of Ninth cranial nerve|glossopharyngeal nerve neoplasms|neoplasm of glossopharyngeal nerve|tumor of the Ninth cranial nerve|glossopharyngeal nerve tumors SCTID:126975006|UMLS:C1263900|NCIT:C5828|ICD9:239.7|DOID:3417 owl:Class MONDO:0014257 biolink:NamedThing nephrotic syndrome, type 9 Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome, type 9|COQ8B nephrotic syndrome|NPHS9|nephrotic syndrome caused by mutation in COQ8B DOID:0080391|OMIM:615573|UMLS:C3809965 owl:Class UBERON:0001487 biolink:NamedThing pes joint A skeletal joint that is part of a pes [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl articulationes pedis|pedal joint|joint of pes|joint of terminal segment of free lower limb|joints of foot|hind limb autopod joint|foot joint owl:Class UBERON:0003840 biolink:NamedThing hindlimb joint A limb joint that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl inferior member limb joint|joint of limb of hind limb|inferior member joint of limb|limb joint of inferior member|hindlimb joint of limb|joint of lower limb|lower extremity joint of limb|limb joint of lower extremity|joint of limb of inferior member|limb joint of hindlimb|hindlimb limb joint|joint of free lower limb|limb joint of hind limb|hind limb limb joint|joint of limb of lower extremity|lower extremity limb joint|hind limb joint of limb|joint of limb of hindlimb owl:Class MONDO:0010194 biolink:NamedThing Weill-Marchesani syndrome 1 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. tmpak2llvmy_mondo_relaxed.owl WMS1|ADAMTS10 Weill-Marchesani syndrome|Weill-Marchesani syndrome type 1|spherophakia-brachymorphia syndrome|mesodermal Dysmorphodystrophy, congenital|Weill-Marchesani syndrome caused by mutation in ADAMTS10|Weill-Marchesani syndrome 1|Weill-Marchesani syndrome, autosomal recessive OMIM:277600 owl:Class MONDO:0018096 biolink:NamedThing Weill-Marchesani syndrome Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. tmpak2llvmy_mondo_relaxed.owl mesodermal Dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome|spherophakia brachymorphia syndrome|congenital mesodermal dystrophy|Marchesani-Weill syndrome|WMS|mesodermal dysmorphodystrophy congenital|WM syndrome MedDRA:10064963|MESH:D056846|OMIMPS:277600|SCTID:2884008|NCIT:C85226|ICD9:759.89|Orphanet:3449|DOID:0050475|UMLS:C0265313|GARD:0004936|ICD10:Q87.0 owl:Class UBERON:0035006 biolink:NamedThing preputial swelling of female tmpak2llvmy_mondo_relaxed.owl prepuce of female owl:Class UBERON:0035004 biolink:NamedThing preputial swelling tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:16716 biolink:NamedThing benzene A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. tmpak2llvmy_mondo_relaxed.owl Phene|Benzene|cyclohexatriene|benzole|Benzine|BENZENE|benzene|Bicarburet of hydrogen|Pyrobenzol|Pyrobenzole|Mineral naphtha|Benzen|phenyl hydride|Benzol|Coal naphtha|[6]annulene owl:Class CHEBI:22712 biolink:NamedThing benzenes Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003047 biolink:NamedThing thymic large cell neuroendocrine carcinoma An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis. tmpak2llvmy_mondo_relaxed.owl large cell neuroendocrine carcinoma of Thymus|thymus large cell neuroendocrine carcinoma|thymus large cell carcinoma|large cell neuroendocrine carcinoma of the Thymus|thymic LCNEC|large cell neuroendocrine carcinoma of thymus|Thymus large cell carcinoma|large cell carcinoma of the Thymus|thymic large cell neuroendocrine carcinoma DOID:4553|NCIT:C6461|UMLS:C1334364 owl:Class MONDO:0005057 biolink:NamedThing large cell neuroendocrine carcinoma A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas. tmpak2llvmy_mondo_relaxed.owl large cell neuroendocrine carcinoma|large-cell neuroendocrine carcinoma|LCNEC|large cell NEC NCIT:C6875|ONCOTREE:LUNE|EFO:0000563|ICDO:8013/3|UMLS:C1265996|DOID:0050872 owl:Class GO:0031338 biolink:NamedThing regulation of vesicle fusion Any process that modulates the frequency, rate or extent of vesicle fusion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0033043 biolink:NamedThing regulation of organelle organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpak2llvmy_mondo_relaxed.owl regulation of organelle organization and biogenesis|regulation of organelle organisation owl:Class MONDO:0007376 biolink:NamedThing fleck corneal dystrophy Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. tmpak2llvmy_mondo_relaxed.owl Francois-Neetens speckled corneal dystrophy|FranC'ois-Neetens speckled corneal dystrophy|corneal dystrophy, FLECK|FCD|Cfd|corneal dystrophy, Francois-Neetens speckled or flecked|fleck corneal dystrophy|François-Neetens speckled corneal dystrophy MESH:C563256|OMIM:121850|ICD9:371.56|UMLS:C1562113|ICD10:H18.5|SCTID:417183007|Orphanet:98970|DOID:0060448 owl:Class MONDO:0020213 biolink:NamedThing stromal corneal dystrophy The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy (disease) of substantia propria of cornea|substantia propria of cornea corneal dystrophy (disease)|corneal stromal dystrophy|stromal dystrophy Orphanet:98626|UMLS:C0038457|ICD9:371.56|DOID:0060442|ICD10:H18.5|SCTID:231931001 owl:Class MONDO:0014510 biolink:NamedThing fatty acyl-CoA reductase 1 deficiency tmpak2llvmy_mondo_relaxed.owl severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|rhizomelic chondrodysplasia punctata type 4|fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency|fatty acyl-CoA reductase 1 disorder|fatty acyl-CoA reductase 1 deficiency|peroxisomal fatty acyl-CoA reductase 1 disorder|FAR1 deficiency|severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency|severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency|PFCRD Orphanet:438178|ICD10:E71.3|UMLS:C4015344|OMIM:616154 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class ECTO:1000007 biolink:NamedThing exposure to high temperature environment A exposure event involving the interaction of an exposure receptor to high temperature environment. tmpak2llvmy_mondo_relaxed.owl high temperature environment exposure owl:Class MONDO:0011500 biolink:NamedThing Becker nevus syndrome Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual. tmpak2llvmy_mondo_relaxed.owl Becker nevus syndrome|hairy epidermal nevus syndrome|pigmentary hairy epidermal nevus Orphanet:64755|UMLS:C1858042|MESH:C565735|OMIM:604919|GARD:0003856|ICD10:D22.5 https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome owl:Class MONDO:0015853 biolink:NamedThing deficient breast volume or number tmpak2llvmy_mondo_relaxed.owl Orphanet:180173 owl:Class UBERON:0016928 biolink:NamedThing metaphysis of fibula A metaphysis that is part of a fibula. tmpak2llvmy_mondo_relaxed.owl fibula metaphysis|fibular metaphysis owl:Class UBERON:0001438 biolink:NamedThing metaphysis Zone of long bone that is between the epiphysis and diaphysis. Subdivision of diaphysis which forms the proximal or distal end of diaphysis next to the epiphysis; together with diaphysis proper, it constitutes the diaphysis. Examples: proximal metaphysis of humerus, distal metaphysis of femur.[FMA] tmpak2llvmy_mondo_relaxed.owl metaphyses|diaphyseal end of long bone|long bone metaphysis owl:Class HGNC:6944 biolink:NamedThing MCM2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1902679 biolink:NamedThing negative regulation of RNA biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process. tmpak2llvmy_mondo_relaxed.owl inhibition of RNA synthesis|negative regulation of RNA biosynthesis|downregulation of RNA formation|downregulation of RNA anabolism|down regulation of RNA synthesis|down regulation of RNA formation|negative regulation of RNA formation|down-regulation of RNA formation|down regulation of RNA biosynthetic process|inhibition of RNA biosynthesis|downregulation of RNA synthesis|downregulation of RNA biosynthesis|down-regulation of RNA synthesis|negative regulation of RNA anabolism|downregulation of RNA biosynthetic process|down-regulation of RNA anabolism|down-regulation of RNA biosynthesis|inhibition of RNA formation|inhibition of RNA biosynthetic process|down regulation of RNA anabolism|inhibition of RNA anabolism|down regulation of RNA biosynthesis|down-regulation of RNA biosynthetic process|negative regulation of RNA synthesis owl:Class GO:0051253 biolink:NamedThing negative regulation of RNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpak2llvmy_mondo_relaxed.owl inhibition of RNA metabolic process|down-regulation of RNA metabolic process|negative regulation of RNA metabolism|downregulation of RNA metabolic process|down regulation of RNA metabolic process owl:Class MONDO:0010196 biolink:NamedThing Werner syndrome Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. tmpak2llvmy_mondo_relaxed.owl Werner syndrome|adult premature ageing syndrome|adult progeria|WS|Werner's syndrome|WRN Orphanet:902|MESH:D014898|GARD:0007885|MedDRA:10049429|SCTID:51626007|OMIM:277700|ICD9:259.8|DOID:5688|UMLS:C0043119|ICD10:E34.8|NCIT:C3447 owl:Class MONDO:0000608 biolink:NamedThing familial juvenile hyperuricemic nephropathy tmpak2llvmy_mondo_relaxed.owl juvenile gouty nephropathy|gouty nephropathy, familial|familial nephropathy with gout|familial nephropathy associated with hyperuricemia|juvenile gout|nephropathy, familial, with gout|familial juvenile gouty nephropathy|FJHN|familial juvenile hyperuricemic nephropathy|tubulointerstitial kidney disease|gouty nephropathy, familial juvenile UMLS:CN239392|SCTID:46785007|OMIMPS:162000|MESH:C537696|GARD:0000067|DOID:0060062 owl:Class UBERON:0001274 biolink:NamedThing ischium Endochondral bone that is paired, forming the posterior part of the pelvis, articulating with the pubis and ilium. tmpak2llvmy_mondo_relaxed.owl ischium bone|ischial bone|os ischii owl:Class UBERON:0002513 biolink:NamedThing endochondral bone Replacement bone that forms within cartilage. tmpak2llvmy_mondo_relaxed.owl ossified chondrogenic bone|cartilaginous bone|endochondral bones owl:Class UBERON:0015751 biolink:NamedThing inferior tarsal muscle A smooth muscle tissue that is part of a inferior eyelid tarsus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003386 biolink:NamedThing smooth muscle of eye any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi tmpak2llvmy_mondo_relaxed.owl ocular smooth muscle owl:Class MONDO:0001440 biolink:NamedThing neurotrophic keratoconjunctivitis tmpak2llvmy_mondo_relaxed.owl SCTID:77080005|ICD9:370.35|DOID:12125|ICD10:H16.23|UMLS:C0155084 owl:Class MONDO:0004768 biolink:NamedThing keratoconjunctivitis Inflammation of both the cornea and the conjunctiva. tmpak2llvmy_mondo_relaxed.owl DOID:9368|SCTID:88151007|ICD9:370.40|MESH:D007637|NCIT:C34744|ICD10:H16.20|ICD9:370.49|ICD9:370.8|HP:0001096|ICD10:H16.2|UMLS:C0022573 owl:Class MONDO:0019487 biolink:NamedThing epilepsy with myoclonic absences tmpak2llvmy_mondo_relaxed.owl ICD10:G40.4|SCTID:230422001|Orphanet:86911 owl:Class MONDO:0005395 biolink:NamedThing movement disorder Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. tmpak2llvmy_mondo_relaxed.owl movement disorders|movement disease|movement disorder ICD9:333.99|EFO:0004280|SCTID:60342002|MESH:D009069|ICD9:333.90|DOID:480|NCIT:C116757 owl:Class MONDO:0001731 biolink:NamedThing benign vaginal mixed epithelial and mesenchymal neoplasm A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements. tmpak2llvmy_mondo_relaxed.owl benign vaginal mixed epithelial and mesenchymal neoplasm|benign vaginal carcinosarcoma|benign vaginal mixed epithelial and mesenchymal tumor NCIT:C40275|UMLS:C1511106|DOID:135 owl:Class MONDO:0000647 biolink:NamedThing benign vaginal neoplasm A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus. tmpak2llvmy_mondo_relaxed.owl vaginal benign neoplasm|benign neoplasm of the vagina|benign tumor of the vagina|benign vaginal neoplasms|benign tumor of vagina|benign vaginal tumor|benign vaginal neoplasm|benign neoplasm of vagina|vagina female reproductive organ benign neoplasm|vagina benign neoplasm SCTID:92473001|UMLS:C0154002|ICD9:221.1|DOID:0060114|NCIT:C3610 owl:Class GO:0006837 biolink:NamedThing serotonin transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015850 biolink:NamedThing organic hydroxy compound transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. tmpak2llvmy_mondo_relaxed.owl organic alcohol transport owl:Class MONDO:0007673 biolink:NamedThing Glucoglycinuria tmpak2llvmy_mondo_relaxed.owl Glucoglycinuria OMIM:138070|MESH:C562670|UMLS:C0268536 owl:Class UBERON:0010191 biolink:NamedThing aortic system tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011216 biolink:NamedThing organ system subdivision A subdivision of an anatomical system. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:119095 biolink:NamedThing Capillaria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:455381 biolink:NamedThing Capillariidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012720 biolink:NamedThing Krabbe disease, atypical, due to saposin A deficiency tmpak2llvmy_mondo_relaxed.owl Krabbe disease, atypical, due to saposin A deficiency|saposin A deficiency|Krabbe disease, atypical due to saposin A deficiency GARD:0010289|UMLS:C2673266|OMIM:611722|MESH:C567097 https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency owl:Class CL:1001596 biolink:NamedThing salivary gland glandular cell Glandular cell of salivary gland. Example: Serous cells, mucous cells, cuboidal epithelial cells of the intercalated ducts, simple cuboidal epithelium of the striated ducts, epithelial cells of excretory ducts. tmpak2llvmy_mondo_relaxed.owl salivary gland glandular cells CALOHA:TS-1282 owl:Class ECTO:9001630 biolink:NamedThing exposure to endocrine disruptor An exposure to endocrine disruptor. tmpak2llvmy_mondo_relaxed.owl exposure to endocrine disruptor owl:Class MONDO:0008368 biolink:NamedThing autosomal dominant distal renal tubular acidosis Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. tmpak2llvmy_mondo_relaxed.owl autosomal dominant distal renal tubular acidosis (disease)|renal tubular acidosis, distal, autosomal dominant|distal renal tubular acidosis (disease), autosomal dominant|renal tubular acidosis 1|RTA, distal type, autosomal dominant|RTA, gradient type|AD dRTA|RTA, classic type|autosomal dominant SLC4A1-associated distal renal tubular acidosis ICD10:N25.8|OMIM:179800|Orphanet:93608|GARD:0004668 owl:Class MONDO:0015827 biolink:NamedThing distal renal tubular acidosis Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. tmpak2llvmy_mondo_relaxed.owl classic RTA|dRTA|renal tubular acidosis, distal|renal tubular acidosis type 1|distal renal tubular acidosis|familial distal primary acidosis|distal renal tubular acidosis (disease) distal renal tubular acidosis (disease) HP:0008341|OMIMPS:179800|GARD:0004667|Orphanet:18|ICD9:588.89|ICD10:N25.8|MedDRA:10045224|SCTID:236461000 owl:Class MONDO:0013011 biolink:NamedThing atrial septal defect 5 Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene. tmpak2llvmy_mondo_relaxed.owl atrial heart septal defect caused by mutation in ACTC1|atrial heart septal defect type 5|ASD5|atrial septal defect type 5|ACTC1 atrial heart septal defect|atrial septal defect 5 UMLS:C2748552|ICD10:Q21.1|DOID:0110110|MESH:C567561|OMIM:612794 owl:Class MONDO:0006664 biolink:NamedThing atrial septal defect Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart. tmpak2llvmy_mondo_relaxed.owl atrioseptal defect|ASD|congenital atrial septal defect|atrial septal defect|interauricular septal defect|auricular septal defect|interatrial septal defect|interatrial communication|interauricular communication|atrial septum defect EFO:1000825|MedDRA:10003664|OMIMPS:108800|Orphanet:1478|ICD10:Q21.1|UMLS:C0018817|MedDRA:10019308|MedDRA:10068864|DOID:1882|NCIT:C84473|MESH:D006344|SCTID:253366007 owl:Class MONDO:0013944 biolink:NamedThing autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation tmpak2llvmy_mondo_relaxed.owl APLAID|AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated UMLS:C3553961|Orphanet:324530|OMIM:614878 owl:Class MONDO:0017956 biolink:NamedThing mixed autoinflammatory and autoimmune syndrome tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:324933|UMLS:CN204102 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoinflammatory syndrome' MONDO_0019751 owl:Class MONDO:0015666 biolink:NamedThing familial idiopathic dilatation of the right atrium Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. tmpak2llvmy_mondo_relaxed.owl familial idiopathic dilatation of the right atrium (disease) familial idiopathic dilatation of the right atrium (disease) SCTID:716773002|UMLS:CN200093|Orphanet:1677|ICD10:Q20.8 owl:Class MONDO:0020294 biolink:NamedThing atrial defect and interatrial communication tmpak2llvmy_mondo_relaxed.owl atrial defect and interauricular communication|rare atrial defect and interatrial communication ICD10:Q21.1|Orphanet:98727 owl:Class MONDO:0018963 biolink:NamedThing hereditary methemoglobinemia Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. tmpak2llvmy_mondo_relaxed.owl autosomal recessive methemoglobinemia|hereditary methemoglobinemia|congenital methemoglobinemia SCTID:267550008|GARD:0002659|Orphanet:621|NCIT:C98898|UMLS:C0272087|MESH:C580280|ICD10:D74.0 owl:Class MONDO:0002280 biolink:NamedThing anemia A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. tmpak2llvmy_mondo_relaxed.owl anemia|anemia (disease)|anaemia anemia (disease) NCIT:C2869|ICD9:285.9|EFO:0004272|HP:0001903|MESH:D000740|ICD9:285.8|ICD10:D64.9|SCTID:271737000|DOID:2355 owl:Class MONDO:0007598 biolink:NamedThing factors VIII, IX and XI, combined deficiency of tmpak2llvmy_mondo_relaxed.owl familial multiple coagulation Factor deficiency 5|factors VIII, 9 and Xi, combined deficiency of|factors VIII, IX and XI, combined deficiency of|multiple coagulation Factor deficiency 5 MESH:C565023|OMIM:134520|UMLS:C1851375 owl:Class MONDO:0003117 biolink:NamedThing somatoform disorder A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons. tmpak2llvmy_mondo_relaxed.owl physiological malfunction arising from mental factor|psychosomatic disorder|psychophysiologic disorder|somatoform disorder ICD9:300.8|ICD10:F45|MESH:D013001|NCIT:C34956|ICD9:300.81|DOID:4737|ICD9:306.8|SCTID:31297008|ICD10:F45.9|ICD10:F45.0 owl:Class MONDO:0002025 biolink:NamedThing psychiatric disorder A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. tmpak2llvmy_mondo_relaxed.owl Psychiatric disorder|mental illness|disease of mental health|mental disorder|mental dysfunction|Psychiatric disease ICD10:F99|MESH:D001523|ICD10:F99-F99|DOID:150|MFOMD:0000004|NCIT:C2893 owl:Class MONDO:0006456 biolink:NamedThing thymoma A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl THYM|primary thymic epithelial tumor|thymoma (disease)|primary thymic epithelial neoplasm|thymoma thymoma (disease) ICD10:D15.0|NCIT:C3411|DOID:3275|ICD9:239.89|MedDRA:10043670|SCTID:444231005|HP:0100522|ICD10:D38.4|ICDO:8580/1|ONCOTREE:THYM|UMLS:C0040100|EFO:1000581|Orphanet:99867 owl:Class MONDO:0018079 biolink:NamedThing thymic epithelial neoplasm An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. tmpak2llvmy_mondo_relaxed.owl Tet|epithelial tumor of Thymus|epithelial neoplasm of the Thymus|thymic epithelial tumor|thymus epithelial neoplasm|epithelial tumor of the Thymus|TEN|thymic epithelium neoplasm|Thymus epithelial tumor|Thymus epithelial neoplasm|epithelial neoplasm of Thymus|thymoma, adult ICD10:C37|MESH:C536905|UMLS:C1266101|ONCOTREE:TET|NCIT:C6450|GARD:0005201|ICD10:D15.0|Orphanet:3398 owl:Class GO:0043254 biolink:NamedThing regulation of protein-containing complex assembly Any process that modulates the frequency, rate or extent of protein complex assembly. tmpak2llvmy_mondo_relaxed.owl regulation of protein complex assembly owl:Class GO:0051128 biolink:NamedThing regulation of cellular component organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpak2llvmy_mondo_relaxed.owl regulation of cell organization|regulation of cell organisation|regulation of cellular component organisation|regulation of cellular component organization and biogenesis owl:Class MONDO:0011310 biolink:NamedThing long chain fatty acids, defect in transport of tmpak2llvmy_mondo_relaxed.owl long chain fatty acids, defect in TRANSPORT OF OMIM:603376 owl:Class MONDO:0009223 biolink:NamedThing hypogonadotropic hypogonadism 23 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene. tmpak2llvmy_mondo_relaxed.owl 46,XY DSD due to LHB deficiency|HH23|Leydig cell hypoplasia due to LHB deficiency|46,XY disorder of sex development due to LHB deficiency|Pasqualini syndrome|fertile eunuch syndrome|hypogonadotropic hypogonadism 23 without anosmia|eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)|46,XY DSD due to luteinizing hormone subunit beta deficiency|Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency|46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism caused by mutation in LHB|LHB hypogonadotropic hypogonadism ICD10:Q56.1|DOID:0090091|GARD:0010127|MESH:C537919|Orphanet:325448|OMIM:228300|UMLS:C0271582|SCTID:8829008|ICD9:253.4 owl:Class UBERON:0000117 biolink:NamedThing respiratory tube A tube in the respiratory system. Examples: bronchus, bronchiole, trachea. tmpak2llvmy_mondo_relaxed.owl respiratory conducting tube|segment of tracheobronchial tree|tracheobronchial tree segment|airway owl:Class CHEBI:33837 biolink:NamedThing conjugated protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. tmpak2llvmy_mondo_relaxed.owl complex protein|conjugated proteins owl:Class CHEBI:36080 biolink:NamedThing protein A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. tmpak2llvmy_mondo_relaxed.owl proteins owl:Class HP:0011387 biolink:NamedThing Enlarged vestibular aqueduct Increased size of the vestibular aqueduct. tmpak2llvmy_mondo_relaxed.owl Widened vestibular aqueduct|Dilated vestibular aqueduct UMLS:C1863752|MSH:C566366 Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. peter 2012-03-09T07:38:34Z human_phenotype owl:Class HP:0011376 biolink:NamedThing Morphological abnormality of the vestibule of the inner ear A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. tmpak2llvmy_mondo_relaxed.owl Vestibular abnormality UMLS:C0542259 The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration. peter 2012-03-07T08:35:08Z human_phenotype owl:Class HGNC:18672 biolink:NamedThing CDK5RAP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000979 biolink:NamedThing tibia The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl shankbone|shinbone owl:Class UBERON:0003608 biolink:NamedThing hindlimb long bone A long bone that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hind limb long bone|long bone of inferior member|long bone of lower extremity|long bone of hindlimb|lower extremity long bone|inferior member long bone|long bone of hind limb owl:Class MONDO:0014885 biolink:NamedThing Hermansky-Pudlak syndrome 10 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene. tmpak2llvmy_mondo_relaxed.owl Hermansky-Pudlak syndrome type 10|Hermansky-Pudlak syndrome caused by mutation in AP3D1|HPS10|AP3D1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 10; HPS10|Hermansky-Pudlak syndrome 10 OMIM:617050|UMLS:C4310746 owl:Class MONDO:0019312 biolink:NamedThing Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. tmpak2llvmy_mondo_relaxed.owl HPS (Hermansky Pudlak syndrome)|HPS|Hermansky Pudlak syndrome GARD:0006643|DOID:3753|NCIT:C37261|MedDRA:10071775|Orphanet:79430|OMIMPS:203300|MESH:D022861|ICD10:E70.331|SCTID:9311003|ICD10:E70.3|ICD9:270.2 owl:Class MONDO:0016962 biolink:NamedThing partial duplication of the long arm of chromosome 11 tmpak2llvmy_mondo_relaxed.owl 11q duplication|partial duplication of chromosome 11q|trisomy 11q|partial duplication of the long arm of chromosome type 11|partial trisomy of chromosome 11q|partial trisomy of the long arm of chromosome 11|11q trisomy|partial trisomy 11q|Duplication 11q|chromosome 11q duplication Orphanet:262923|GARD:0001923 owl:Class MONDO:0016932 biolink:NamedThing partial duplication of chromosome 11 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 11|partial duplication of chromosome type 11 SCTID:726350006|Orphanet:262653 owl:Class MONDO:0019091 biolink:NamedThing bronchopulmonary dysplasia Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. tmpak2llvmy_mondo_relaxed.owl BPD ICD10:P27.1|MedDRA:10006475|NCIT:C90599|SCTID:67569000|MESH:D001997|Orphanet:70589|UMLS:C0006287|GARD:0005962 https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia owl:Class MONDO:0015930 biolink:NamedThing respiratory malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:182111 owl:Class UBERON:0010955 biolink:NamedThing trapezius pre-muscle mass tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006904 biolink:NamedThing head mesenchyme from mesoderm A head mesenchyme that develops_from a mesoderm. tmpak2llvmy_mondo_relaxed.owl head mesenchyme derived from mesoderm|head mesenchyme from mesoderm|cranial mesoderm|head mesenchyme from head mesoderm|mesenchyme from head mesoderm|head mesoderm|mesenchyme derived from head mesoderm owl:Class UBERON:0002378 biolink:NamedThing muscle of abdomen Muscle (organ) which is a part of the abdomen. Examples: external oblique, rectus abdominis. tmpak2llvmy_mondo_relaxed.owl abdomen muscle organ|abdominal muscle|abdominal wall musculature|abdominal wall muscle|abdomen muscle|muscle organ of abdomen owl:Class UBERON:0005172 biolink:NamedThing abdomen element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. tmpak2llvmy_mondo_relaxed.owl abdomen organ owl:Class MONDO:0020276 biolink:NamedThing pigmentation disorder with eye involvement, excluding albinism tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227845|Orphanet:98708 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pigmentation disease' MONDO_0006600 owl:Class MONDO:0020270 biolink:NamedThing pigmentation disorder with eye involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227844|Orphanet:98700 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0011985 biolink:NamedThing hyper-IgM syndrome type 4 A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation. tmpak2llvmy_mondo_relaxed.owl hyper-IgM syndrome type 4|immunodeficiency with hyper IgM type 4|immunodeficiency with hyper-IgM type 4|hyper IgM syndrome 4|immunodeficiency with hyper-IgM, type 4|HIGM4|hyper-IgM syndrome 4 DOID:0060760|OMIM:608184|GARD:0010580|MESH:C564277|ICD10:D80.5|Orphanet:101091|UMLS:C1842413 https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4 owl:Class MONDO:0015976 biolink:NamedThing hyper-IgM syndrome without susceptibility to opportunistic infections tmpak2llvmy_mondo_relaxed.owl HIGM without susceptibility to opportunistic infections Orphanet:183666|ICD10:D80.5|UMLS:CN200573 owl:Class MONDO:0005322 biolink:NamedThing ulna fracture Fractures of the larger bone of the forearm. tmpak2llvmy_mondo_relaxed.owl bone fracture of ulna|ulna bone fracture EFO:0003950|MESH:D014458|SCTID:54556006 owl:Class MONDO:0005315 biolink:NamedThing bone fracture Breaks in bones. tmpak2llvmy_mondo_relaxed.owl fracture(s)|fracture of bone|fracture MESH:D050723|NCIT:C3046|SCTID:125605004|EFO:0003931 owl:Class UBERON:0001441 biolink:NamedThing hindlimb skeleton Subdivision of skeleton consisting of all skeletal elements in an hindlimb region. tmpak2llvmy_mondo_relaxed.owl hindlimb skeleton|bones of lower limb|hind limb skeleton|skeleton of free lower limb|free lower limb skeleton|lower limb skeleton|set of bones of lower limb|skeleton of lower limb|ossa membri inferioris|hind-limb skeleton owl:Class UBERON:0007273 biolink:NamedThing pelvic appendage skeleton The collection of all skeletal elements in a pelvic appendage region. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000729 biolink:NamedThing Autistic behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. tmpak2llvmy_mondo_relaxed.owl Autistic behaviour|Autistic behaviors|Autism spectrum disorders|Autism spectrum disorder|ASD|Pervasive developmental disorder|Autistic behaviours MSH:D000067877|UMLS:C0856975|UMLS:C1510586 This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. human_phenotype owl:Class HP:0000708 biolink:NamedThing Behavioral abnormality An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. tmpak2llvmy_mondo_relaxed.owl Behavioural/Psychiatric abnormality|Behavioral abnormality|Behavioral problems|Behavioural disorders|Psychiatric disorders|Behavioural changes|Behavioural abnormality|Behavioral changes|Behavioural symptoms|Behavioural problems|Behavioral/psychiatric abnormalities|Behavioural disturbances|Psychiatric disturbances|Behavioral symptoms|Behavioral disorders|Behavioral disturbances SNOMEDCT_US:25786006|MSH:D000066553|SNOMEDCT_US:277843001|UMLS:C0004941|UMLS:C0233514|MSH:D001526 HP:0002456|HP:0002368|HP:0000715 human_phenotype owl:Class MONDO:0002997 biolink:NamedThing anterior cranial fossa meningioma A meningioma that affects the anterior cranial fossa. tmpak2llvmy_mondo_relaxed.owl meningioma of the anterior fossa|anterior fossa meningioma|meningioma of anterior cranial fossa|meningioma (disease) of anterior cranial fossa|meningioma of the anterior cranial fossa|meningioma of anterior fossa|anterior cranial fossa meningioma (disease) DOID:4436|NCIT:C5286|UMLS:C1332301 owl:Class MONDO:0006396 biolink:NamedThing rectal villous adenoma A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl rectum villous adenoma|rectal villous adenoma|villous adenoma of rectum|villous adenoma of the rectum UMLS:C0730199|NCIT:C4919|SCTID:312823001|EFO:1000506 owl:Class MONDO:0000530 biolink:NamedThing rectum adenoma An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpak2llvmy_mondo_relaxed.owl adenoma of rectum|adenoma of the rectum|rectal adenoma|rectum adenoma NCIT:C5546|UMLS:C1302652|SCTID:399730005|DOID:0050915 owl:Class MONDO:0100233 biolink:NamedThing long COVID-19 A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction. tmpak2llvmy_mondo_relaxed.owl post-acute sequelae of COVID-19|PASC|long haul COVID-19|post-acute sequelae of SARS-CoV-2 infection|long-haul COVID-19|sequelae of COVID-19 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100320 biolink:NamedThing post-COVID-19 disorder A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0002348 biolink:NamedThing epicardium a region of the serous membrane that forms the innermost layer of the pericardium and the outer surface of the heart. tmpak2llvmy_mondo_relaxed.owl heart epicardium|pericardium visceral mesothelium|visceral serous pericardium proper|visceral serous pericardium of heart owl:Class HP:0010701 biolink:NamedThing Abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood. tmpak2llvmy_mondo_relaxed.owl Abnormal serum immunoglobulin concentration|Abnormal serum immunoglobulin levels|Abnormal immunoglobulin concentration|Immunoglobulin abnormality|Abnormal serum level of immunoglobulin UMLS:C1855755 'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal)) peter 2010-03-22T08:17:49Z HP:0100032 human_phenotype owl:Class HP:0005372 biolink:NamedThing Abnormality of B cell physiology An abnormality of the physiological functioning of B cells. tmpak2llvmy_mondo_relaxed.owl Reduced B cell function|Abnormality of B cell physiology UMLS:C1849242 This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. HP:0005398 human_phenotype owl:Class UBERON:0000304 biolink:NamedThing tendon sheath A layer of membrane around a tendon. It has 2 layers: synovial sheath + fibrous tendon sheath tmpak2llvmy_mondo_relaxed.owl vagina tendinis|synovial tendon sheath owl:Class UBERON:0001251 biolink:NamedThing marginal zone of spleen the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens tmpak2llvmy_mondo_relaxed.owl spleen marginal zone|junctional zone of spleen|marginal zone owl:Class MONDO:0010911 biolink:NamedThing prolactin-producing pituitary gland adenoma Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. tmpak2llvmy_mondo_relaxed.owl prolactin producing pituitary adenoma|lactotrope adenoma|prolactin producing adenoma of the pituitary|prolactin producing pituitary gland adenoma|prolactin secreting pituitary adenoma|prolactin secreting adenoma of the pituitary|prolactinoma of the pituitary gland|familial prolactinoma|prolactin secreting adenoma of the pituitary gland|prolactin producing adenoma of the pituitary gland|PRL producing pituitary gland adenoma|Forbes-Albright syndrome (formerly)|prolactin producing adenoma of pituitary|prolactin secreting pituitary gland adenoma|prolactinoma, familial|pituitary adenoma, prolactin-secreting|prolactin-producing pituitary gland adenoma|prolactinoma of the pituitary|pituitary lactotrophic adenoma|prolactin-secreting pituitary adenoma|PRL-secreting pituitary adenoma|pituitary gland prolactinoma|prolactin secreting adenoma|prolactin secreting adenoma of pituitary|lactotroph adenoma|prolactinoma of pituitary|prolactin producing adenoma of pituitary gland|prolactinoma|prolactin secreting adenoma of pituitary gland|pituitary prolactinoma|prolactinoma of pituitary gland|lactotroph cell adenoma|PRLoma MESH:D015175|EFO:1000496|OMIM:600634|UMLS:C0033375|ICDO:8271/0|Orphanet:2965|NCIT:C3342|ICD10:E22.1|ICD10:D35.2|DOID:5394|GARD:0004508|SCTID:134209002|MedDRA:10036832 owl:Class MONDO:0008649 biolink:NamedThing venular insufficiency, systemic tmpak2llvmy_mondo_relaxed.owl venular insufficiency, systemic MESH:C566004|OMIM:192700|UMLS:C1860465 owl:Class HGNC:3153 biolink:NamedThing ECM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007034 biolink:NamedThing Adams-Oliver syndrome Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects. tmpak2llvmy_mondo_relaxed.owl Adams Oliver syndrome|limb, scalp and skull defects|limb scalp and skull defects|congenital scalp defects with distal limb anomalies|congenital scalp defects with distal limb reduction anomalies|AOS GARD:0005739|DOID:0060227|UMLS:C0265268|ICD9:759.89|ICD10:Q87.2|Orphanet:974|OMIMPS:100300|SCTID:34748004|MESH:C538225 https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome owl:Class MONDO:0017432 biolink:NamedThing syndrome with limb reduction defects tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN203180|Orphanet:294955 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0008731 biolink:NamedThing familial adrenal hypoplasia with absent pituitary luteinizing hormone tmpak2llvmy_mondo_relaxed.owl adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone|familial adrenal hypoplasia with absent pituitary LH|familial adrenal hypoplasia, miniature type UMLS:C1859978|Orphanet:95700|MESH:C565976|OMIM:202150|ICD10:E27.1 owl:Class MONDO:0015770 biolink:NamedThing congenital hypogonadotropic hypogonadism Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). tmpak2llvmy_mondo_relaxed.owl SCTID:722944006|Orphanet:174590|NCIT:C120162|UMLS:C3899503|ICD10:E23.0 owl:Class CL:0010001 biolink:NamedThing stromal cell of bone marrow A stromal cell that is part_of a bone marrow. tmpak2llvmy_mondo_relaxed.owl bone marrow stromal cell GOC:cjm owl:Class CL:0002092 biolink:NamedThing bone marrow cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. tmpak2llvmy_mondo_relaxed.owl BTO:0004850|FMA:83621 MH consider whether bone marrow cells are bone cells in the structural sense vs. being part of bone organ sense. tmeehan 2010-07-22T04:48:15Z cell owl:Class MONDO:0012019 biolink:NamedThing spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. tmpak2llvmy_mondo_relaxed.owl SEDK|spondyloepiphyseal dysplasia, Kimberley type|Sedk ICD10:Q77.7|OMIM:608361|MESH:C564252|SCTID:719203001|Orphanet:93283 owl:Class MONDO:0018239 biolink:NamedThing aggrecan-related bone disorder tmpak2llvmy_mondo_relaxed.owl UMLS:CN227289|Orphanet:364817 owl:Class GO:0033239 biolink:NamedThing negative regulation of cellular amine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines. tmpak2llvmy_mondo_relaxed.owl negative regulation of amine metabolism owl:Class MONDO:0014068 biolink:NamedThing cone-rod dystrophy 17 A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy type 17|CORD17|cone-rod dystrophy 17 OMIM:615163|UMLS:C3554610|DOID:0111023 owl:Class MONDO:0021366 biolink:NamedThing neoplasm of middle ear A neoplasm (disease) that involves the middle ear. tmpak2llvmy_mondo_relaxed.owl neoplasm of the middle Ear|middle ear tumor|middle Ear neoplasm|tumor of the middle Ear|middle ear neoplasm (disease)|tumor of middle Ear|middle ear neoplasm|middle Ear tumor|tumor of middle ear|neoplasm of middle ear ICD9:239.89|NCIT:C4412|SCTID:127006003 owl:Class MONDO:0013633 biolink:NamedThing encephalopathy, acute, infection-induced, susceptibility to, 4 Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene. tmpak2llvmy_mondo_relaxed.owl encephalopathy, acute, infection-induced, susceptibility to, 4|IIAE4|CPT2 encephalopathy, acute, infection-induced|encephalopathy, acute, infection-induced caused by mutation in CPT2|encephalopathy, acute, infection-induced, susceptibility to, type 4 OMIM:614212 owl:Class UBERON:0004893 biolink:NamedThing interalveolar septum A the thin septum that separates adjacent pulmonary alveoli, containing connective tissue constituents of the respiratory tissue and the capillary network of the blood supply of the lung. tmpak2llvmy_mondo_relaxed.owl septum interalveolare|alveolar septum owl:Class MONDO:0011290 biolink:NamedThing dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability tmpak2llvmy_mondo_relaxed.owl dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability|dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation MESH:C566408|UMLS:C1864183|OMIM:603133 owl:Class GO:0002719 biolink:NamedThing negative regulation of cytokine production involved in immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response. tmpak2llvmy_mondo_relaxed.owl down-regulation of cytokine production during immune response|negative regulation of cytokine biosynthetic process involved in immune response|inhibition of cytokine production during immune response|negative regulation of cytokine production during immune response|downregulation of cytokine production during immune response|down regulation of cytokine production during immune response|negative regulation of cytokine secretion involved in immune response owl:Class GO:0001818 biolink:NamedThing negative regulation of cytokine production Any process that stops, prevents, or reduces the rate of production of a cytokine. tmpak2llvmy_mondo_relaxed.owl negative regulation of cytokine formation|negative regulation of cytokine synthesis|down regulation of cytokine biosynthetic process|negative regulation of cytokine biosynthesis|downregulation of cytokine production|inhibition of cytokine production|negative regulation of cytokine anabolism|down-regulation of cytokine production|down regulation of cytokine production|negative regulation of cytokine biosynthetic process|downregulation of cytokine biosynthetic process|down-regulation of cytokine biosynthetic process|inhibition of cytokine biosynthetic process|negative regulation of cytokine secretion owl:Class GO:0009893 biolink:NamedThing positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpak2llvmy_mondo_relaxed.owl up regulation of metabolic process|up-regulation of metabolic process|activation of metabolic process|positive regulation of organismal metabolism|upregulation of metabolic process|stimulation of metabolic process|positive regulation of multicellular organismal metabolic process|positive regulation of metabolism|stimulation of organismal metabolic process|up-regulation of organismal metabolic process owl:Class MONDO:0009948 biolink:NamedThing pyropoikilocytosis, hereditary An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. tmpak2llvmy_mondo_relaxed.owl pyropoikilocytosis, hereditary|pyropoikilocytosis hereditary|hereditary pyropoikilocytosis|HPP SCTID:9434008|MESH:C563004|NCIT:C98943|OMIM:266140|ICD9:790.09|Orphanet:98867|GARD:0004619 https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary owl:Class CHEBI:48407 biolink:NamedThing antiparkinson drug A drug used in the treatment of Parkinson's disease. tmpak2llvmy_mondo_relaxed.owl antiparkinson agent owl:Class CHEBI:66956 biolink:NamedThing antidyskinesia agent Any compound which can be used to treat or alleviate the symptoms of dyskinesia. tmpak2llvmy_mondo_relaxed.owl antidyskinetic agents|antidyskinetic drugs|antidyskinesia drug|antidyskinetic agent|antidyskinesia agents|antidyskinesia drugs|antidyskinetic drug owl:Class MONDO:0005244 biolink:NamedThing peripheral neuropathy A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. tmpak2llvmy_mondo_relaxed.owl neuropathy|peripheral nerve disorder|peripheral neuropathy NCIT:C4731|ICD10:G62.9|EFO:0003100|EFO:0004149|MedDRA:10034606|DOID:870|SCTID:386033004|NCIT:C119734|UMLS:C0442874 Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 owl:Class MONDO:0016449 biolink:NamedThing mid-dermal elastolysis tmpak2llvmy_mondo_relaxed.owl Orphanet:228299 owl:Class MONDO:0016435 biolink:NamedThing acquired dermis elastic tissue disorder with decreased elastic tissue tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:228221|UMLS:CN226928 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: acquired dermis elastic tissue disorder' MONDO_0016434 owl:Class MONDO:0024279 biolink:NamedThing chronic endometritis A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding. tmpak2llvmy_mondo_relaxed.owl chronic endometritis|endometritis, chronic UMLS:C0238104|SCTID:63922003|NCIT:C102820 owl:Class MONDO:0000918 biolink:NamedThing endometritis An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding. tmpak2llvmy_mondo_relaxed.owl endometrium inflammation|inflammation of endometrium|uterine infection EFO:1001312|MESH:D004716|NCIT:C26764|UMLS:C0014179|SCTID:78623009|DOID:1002 owl:Class UBERON:0010000 biolink:NamedThing multicellular anatomical structure An anatomical structure that has more than one cell as a part. tmpak2llvmy_mondo_relaxed.owl multicellular structure owl:Class UBERON:0004448 biolink:NamedThing distal epiphysis of phalanx A distal epiphysis that is part of a phalanx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl head of phalanx owl:Class NCBITaxon:1678 biolink:NamedThing Bifidobacterium tmpak2llvmy_mondo_relaxed.owl Tissieria|Bifidibacterium PMID:20061504|GC_ID:11|PMID:11594590|PMID:17158978|PMID:1742200|PMID:8573484 ncbi_taxonomy owl:Class NCBITaxon:31953 biolink:NamedThing Bifidobacteriaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:19244447 ncbi_taxonomy owl:Class MONDO:0009326 biolink:NamedThing congenital heart block Heart block that occurs on or before 28 days of life. tmpak2llvmy_mondo_relaxed.owl heart block, congenital|congenital atrioventricular block ICD10:Q24.6|GARD:0006164|SCTID:46619002|UMLS:C0149530|MESH:C535758|MedDRA:10019263|OMIM:234700|Orphanet:60041|ICD9:746.86|DOID:990 https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block owl:Class MONDO:0000465 biolink:NamedThing atrioventricular block A heart block that is initiated in the atrioventricular node. tmpak2llvmy_mondo_relaxed.owl atrioventricular block (disease)|AVB|atrioventricular block|AV block|AV nodal block atrioventricular block (disease) ICD10:I44.30|SCTID:233917008|HP:0001678|ICD10:I44.3|UMLS:C0004245|MESH:D054537|DOID:0050820|ICD9:426.10 owl:Class MONDO:0007752 biolink:NamedThing hyperheparinemia tmpak2llvmy_mondo_relaxed.owl hyperheparinemia ICD9:286.5|MESH:C562723|SCTID:79674009|UMLS:C3203346|OMIM:144050 owl:Class ECTO:0000006 biolink:NamedThing exposure to ultraviolet radiation A exposure event involving the interaction of an exposure receptor to ultraviolet radiation. tmpak2llvmy_mondo_relaxed.owl ultraviolet radiation exposure owl:Class GO:0007147 biolink:NamedThing female meiosis II The cell cycle process in which the second meiotic division occurs in the female germline. tmpak2llvmy_mondo_relaxed.owl female meiosis II nuclear division owl:Class GO:0007135 biolink:NamedThing meiosis II The second nuclear division of meiosis, in which the two chromatids in each chromosome are separated, resulting in four daughter nuclei from the two nuclei produced in meiosis II. tmpak2llvmy_mondo_relaxed.owl meiosis II nuclear division owl:Class MONDO:0014722 biolink:NamedThing Roifman syndrome tmpak2llvmy_mondo_relaxed.owl spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency|RFMN|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency|spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|ROIFMAN syndrome|Roifman syndrome UMLS:C1846059|ICD10:Q77.7|OMIM:616651|MESH:C535866|Orphanet:353298|GARD:0009163 https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome owl:Class MONDO:0015132 biolink:NamedThing immunodeficiency predominantly affecting antibody production tmpak2llvmy_mondo_relaxed.owl ICD10:D80.2|ICD10:D80.6|Orphanet:101977|ICD10:D80.4|ICD10:D80.9|ICD10:D80.0|ICD10:D80.5|ICD10:D80.7|ICD10:D80.1|ICD10:D80.8|ICD10:D80.3 owl:Class MONDO:0021104 biolink:NamedThing alcoholic fatty liver disease Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated. tmpak2llvmy_mondo_relaxed.owl alcoholic fatty liver|alcoholic Steatohepatitis ICD9:571.0|UMLS:C0015696|UMLS:C2718067|MESH:D005235|SCTID:50325005 owl:Class MONDO:0004790 biolink:NamedThing fatty liver disease A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis. tmpak2llvmy_mondo_relaxed.owl fatty liver|hepatic lipidosis|steatosis of liver|fatty change of liver SCTID:197321007|ICD10:K70.0|ICD9:571.0|MESH:D005234|SCTID:371330000|ICD9:571.8|EFO:0003934|DOID:9452 owl:Class MONDO:0600014 biolink:NamedThing alveolar capillary dysplasia without misalignment of pulmonary veins A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins. tmpak2llvmy_mondo_relaxed.owl ACD without misalignment http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/pull/3186|https://github.com/monarch-initiative/mondo/issues/3026 owl:Class MONDO:0020295 biolink:NamedThing congenital pulmonary veins anomaly Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. tmpak2llvmy_mondo_relaxed.owl pulmonary vein abnormality|congenital anomaly of pulmonary veins NCIT:C110942|SCTID:111322000|Orphanet:98729 owl:Class MONDO:0005328 biolink:NamedThing eye disease A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. tmpak2llvmy_mondo_relaxed.owl eye disorder|disease of eyeball of camera-type eye|disorder of globe|disease of eyeball|disorder of eye|disease or disorder of eyeball of camera-type eye|eye disease|eyeball of camera-type eye disease|eyeball of camera-type eye disease or disorder|disorder of eyeball of camera-type eye|disorder of eyeball|disorder of eye proper|disease of eye ICD9:360|SCTID:371405004|ICD9:360.9|EFO:0003966|ICD9:360.89|ICD9:379.90|DOID:5614|ICD9:379.8|ICD10:H44.9|NCIT:C26767|UMLS:C0015397|MESH:D005128|ICD10:H44 owl:Class GO:0002579 biolink:NamedThing positive regulation of antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation. tmpak2llvmy_mondo_relaxed.owl up-regulation of antigen processing and presentation|stimulation of antigen processing and presentation|upregulation of antigen processing and presentation|activation of antigen processing and presentation|up regulation of antigen processing and presentation owl:Class GO:0002684 biolink:NamedThing positive regulation of immune system process Any process that activates or increases the frequency, rate, or extent of an immune system process. tmpak2llvmy_mondo_relaxed.owl upregulation of immune system process|activation of immune system process|up-regulation of immune system process|stimulation of immune system process|up regulation of immune system process owl:Class MONDO:0002038 biolink:NamedThing head and neck carcinoma A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpak2llvmy_mondo_relaxed.owl head and neck carcinoma|carcinoma of craniocervical region|craniocervical region carcinoma|carcinoma of the neck|carcinoma of the head and neck|carcinoma of head and neck|carcinoma of neck|neck carcinoma|head and neck cancer UMLS:C1334927|NCIT:C35850|DOID:1542|UMLS:C3887461 owl:Class MONDO:0016853 biolink:NamedThing ring chromosome Y Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. tmpak2llvmy_mondo_relaxed.owl Ring chromosome Y syndrome|Ring chromosome type Y|r(Y) Orphanet:261529|ICD10:Q98.6|SCTID:763407008 owl:Class MONDO:0020061 biolink:NamedThing chromosome Y structural anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98158|ICD10:Q98.6 owl:Class MONDO:0017004 biolink:NamedThing partial monosomy of the short arm of chromosome X tmpak2llvmy_mondo_relaxed.owl partial monosomy of the short arm of chromosome type X|partial deletion of the short arm of chromosome X|partial deletion of chromosome Xp|partial monosomy of chromosome Xp ICD10:Q99.8|Orphanet:263731 owl:Class MONDO:0017003 biolink:NamedThing partial deletion of chromosome X tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type X|partial monosomy of chromosome X ICD10:Q99.8|Orphanet:263726 owl:Class HGNC:2909 biolink:NamedThing DLL3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012075 biolink:NamedThing replacement bone Bone that forms as a replacement of another structural tissue. tmpak2llvmy_mondo_relaxed.owl replacement bones owl:Class UBERON:0010522 biolink:NamedThing replacement element Skeletal element that forms as a replacement or substitution of another element or tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002523 biolink:NamedThing cutaneous mucinosis The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses). tmpak2llvmy_mondo_relaxed.owl mucinosis affecting the skin|mucinoses|mucinosis ICD9:701.8|DOID:3141|UMLS:C0162855|MESH:D017520|SCTID:402721001 Editor note: consider splitting by location owl:Class GO:0030148 biolink:NamedThing sphingolipid biosynthetic process The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpak2llvmy_mondo_relaxed.owl sphingolipid anabolism|sphingolipid formation|sphingolipid synthesis|sphingolipid biosynthesis owl:Class GO:0033280 biolink:NamedThing response to vitamin D Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. tmpak2llvmy_mondo_relaxed.owl response to ergocalciferol|response to cholecalciferol|response to calciferol owl:Class GO:0033993 biolink:NamedThing response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000377 biolink:NamedThing maxillary nerve The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses. tmpak2llvmy_mondo_relaxed.owl nervus maxillaris|trigeminal V nerve maxillary division|maxillary division [V2]|ramus maxillaris (ramus V2)|nervus maxillaris (Vb; V2)|second division of fifth cranial nerve|maxillary division [Vb]|maxillary division of fifth cranial nerve|nervus maxillaris [v2]|n. maxillaris|maxillary nerve [V2]|second division of trigeminal nerve|maxillary nerve [Vb]|nervus maxillaris [vb]|trigeminal nerve maxillary division|maxillary division of trigeminal nerve (Vb; V2) owl:Class MONDO:0019225 biolink:NamedThing gluconeogenesis disorder An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis. tmpak2llvmy_mondo_relaxed.owl inborn gluconeogenesis disorder|inborn error of gluconeogenesis|rare inborn error of gluconeogenesis ICD10:E74.4|Orphanet:79177|UMLS:CN227592 owl:Class MONDO:0002908 biolink:NamedThing glucose metabolism disease A metabolic disorder characterized by abnormal blood glucose levels. tmpak2llvmy_mondo_relaxed.owl glucose metabolism disorder|disorder of glucose metabolism UMLS:C1257958|ICD9:271.8|SCTID:126877002|NCIT:C53655|MESH:D044882|DOID:4194 owl:Class HGNC:2602 biolink:NamedThing CYP24A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100157 biolink:NamedThing Imerslund-Grasbeck syndrome type 2 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). tmpak2llvmy_mondo_relaxed.owl megaloblastic anemia, Norwegian type OMIM:618882 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:3401 biolink:NamedThing EPHX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009359 biolink:NamedThing multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome tm